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                    Health Issues/Research

                                  

                                                              Mission Statement

To promote the health and well being of the purebred Shetland Sheepdog. We plan to accomplish this goal through research
and public education. We encourage all breeders and owners of Shetland Sheepdogs to be aware of health problems in the
breed and to use all resources available to them to ensure the lifelong health and well being of all Shelties in their care. We
| will function as a public resource and clearing house for information related to health concerns as they pertain to the purebred
Shetland Sheepdog. ASSA Research Committee Chair: Mary Mahaffey

Dear Sheltie Fanciers,

 

Take a few minutes to go to www.offa.org/surveys/survey_sheltie.htmland complete the Shetland Sheepdog health survey.

The OFA Health survey is one of the few ways researchers can identify which breeds and which problems deserve their

attention and money. The data collected from this survey also helps to determine which studies receive funding from ASSA

and the AKC Health Foundation. Our problems can only be addressed if we let the world know what they are, so please

go to the OFA website and complete the Shetland Sheepdog Health Survey!

 

Sincerely,

ASSA Health Committee

 

CONTENTS

ASSA Health Activities
Notice on Genetic Diseases in Shelties

Canine Health Information Center (CHIC) Program for Shelties revised April 2011
Shetland Sheepdog Health Survey
OFA Registry Summary by Report Year - 1974 through 2013

CERF Disease Incidence Reports (summaries)- (The more detailed original reports are listed in the "Members Only" section)

     2012 summary report

     2011 summary report

     2010 summary report                                         

     2009 summary report                                    

     2008 summary report                                    

     2007 summary report

CHIC DNA Repository

Current Research Projects

Articles

Current Research Projects

Border Collie Collapse Syndrome:

 

            Border Collie Collapse Syndrome is an exercise induced collapse seen in several breeds including Shetland Sheepdogs. It is not the same as Exercise Induced Collapse of Labrador Retrievers or the result of heat stroke.   “Affected dogs are normal at rest and seem healthy.  Typical collapse episodes begin 5 – 15 min after onset of exercise and include disorientation, dull mentation or loss of focus; swaying, staggering and falling to the side; exaggerated lifting of each limb while walking and a choppy gait; scuffing of the rear and/or forelegs, and crossing of the legs when turning.”  Researchers at the College of Veterinary Medicine, University of Minnesota are studying the problem.  Even though the web page describing the syndrome and study primarily talks about Border Collies, participation of Sheltie owners is welcome and encouraged.  Videos of affected dogs, additional information about the problem and information needed to participate in the study may be found at the following website:http://www.cvm.umn.edu/vbs/faculty/Mickelson/lab/EIC/bordercollieEIC/home.html or by contacting Katie Minor, RN at:

 

Katie Minor, RN

University of Minnesota
c/o Katie Minor
1988 Fitch Ave
295 AS/VM
St. Paul, MN 55108

phone: 612-624-5322
fax: 612-625-0204

 

Participation needed for the following studies

Gallbladder Mucocele Study at NC State University

Unrinary Bladder Cancer

Dermatomyositis

Epilepsy

Abnormal upper 3rd incisor teeth

Lance Canine teeth 

Renal (Kidney) Disease

 

Bladder Cancer Research

Research report: February, 2014

Research report: August, 2012

Research report: March, 2011

Research report: March, 2010

Original study description (2008) and August 2009 report

 

 

Study on the Inheritance of Cleft Lip and Cleft Palate in dogs - updated February, 2014, DNA samples still needed.

Dermatomyositis (DM)
Exocrine Pancreatic Insufficiency
Epilepsy Research
Gallbladder Disease and Hypercholesterolemia Study

“Lance” Canine Teeth and Abnormal 3rd Incisor Teeth

Abnormal 3rd Incisor Submission Form

"Lance" Canine Submission Form

Patent Ductus Arteriosus (PDA) (Jan 2012)

Research on Canine Cancer

The Search for Genes that Control Growth in Purebred Dogs

Undescended Testicles (Cryptorchidism) Research

Articles
To Test or not to Test?
Considering breeding your Sheltie?

AKC Canine Health Foundation Grants Supported


Grants Sponsored by the ASSA through the Shetland Sheepdog Donor Advised Fund administered by AKC Canine Health Foundation

(Dollar amounts noted are the amounts donated from the Shetland Sheepdog Donor Advised Fund.)

 

2014

 

Grant #01986: Profiling the Metabolic and Lipid Imbalances that are Causative of Gallbladder Disease in Dogs.   Dr. Jody L. Gookin, DVM, PhD; North Carolina State University.  Grant Period: 1/1/2014 - 12/31/2015. $35,000.

Project Goal:  To determine if dogs that develop gallbladder mucoceles (GBM) have a unique disturbance in cholesterol or lipid metabolism in an attempt to understand why GBM form and develop tests for early diagnosis.

 

 

2013 

 

Grant #01766: Identification and Validation of the Genes That Define Abnormal Development of the Kidney in Dogs.  Dr. Kerstin Lindblah-Toh, Broad Institute, 1/1/2013 to 12/31/2014.  $2,500.

 

Project Goal:  To conduct genetic and functional studies to identify the causative mutation of Renal Dysplasia in Boxers.  The research group will also collect additional samples from Shetland Sheepdogs as well as other breeds.  Genome-wide association studies in Boxers and other breeds will help dissect the genetics of canine renal dysplasia, improve our understanding of renal development in dogs and humans, and determine whether breed specific genetic tests will be required for prevention.

 

Grant #01766 – December,2013 Report

 

 

Grant #01849: Filling the Gaps in the Canine Genome. Dr. Shaying Zhao, University of Georgia, 1/1/2013 to 12/31/2014. $2,500.

 

Project Goal:  To build the most accurate and complete annotation of the dog genome for its gene annotation. The project will significantly facilitate research in areas of canine health most significant to the AKC Canine Health Foundation constituency and lead to important RNA-based (transcriptomic) and protein-based (proteomic) research in the future.

 

Grant #01849December, 2013 Report

 

 

2012

 

Grant 1577:  Fine Mapping of Loci for Transitional Cell Carcinoma in the Scottish Terrier,

West Highland White Terrier, and Shetland Sheepdog,

Dr. Elaine Ostrander, PhD; National Human Genome Research Institution- $2,500.


Project Goal: The goal of this project is to find the gene mutation that is responsible for

Transitional Cell Carcinoma, a type of bladder cancer, in three breeds of dogs with higher risk for the disease. 

Grant15772012 Report 2013 Report July 2013 Report, 2013 Final Report

 

Grant 1615:  Identification of Idiopathic Epilepsy Genes in Australian Shepherds
Dr. Ned E. Patterson, DVM PhD; University of Minnesota - $2,500.


Project Goal: This research group aims to identify the genetic mutation associated with epilepsy in

Australian Shepherds and develop a DNA based test to identify affected dogs and aid in diagnosis. 

After identifying a mutation, the researchers will also test to see if the mutation(s) affect other dog breeds

with a high incidence of epilepsy.  Grant 1615 – 2012 Report 2013 Report

2011

 

Grant 01418: PET 2.0: Providing Engineered T-cells (PET): New Genetic and Immunotherapy Targeting Canines

with Spontaneous B-cell Lymphoma,

Dr. Heather M. Wilson, DVM, Texas A&M University - $2,500.  Grant 01408 - 2012 Report 2013 Report

 

2010

 

Grant 01336A&B:  Finding the Mutations that Increase Susceptibility to Transitional Cell Carcinoma in the

Scottish Terrier, West Highland Terrier, and Shetland Sheepdog - $10,000.

 

Grant 00762:  The Mapping and Characterization of Canine Epilepsy Loci,

Primary Investigator Dr. Gary Johnson, University of Missouri - $5,000.

 

Grant 01262:  Sequencing and Functional Analysis of the Canine Y Chromosome,

Dr. William Murphy, Texas A & M University - $2,500.

 

Grant 01248:  Whole Genome Association Analyses for Cryptorchidism in Dogs,

Dr. Max Rothschild, Iowa State University - $2,500.

 

2009

 

Grant 00779: Characterization of the Canine Y Chromosome: Identifying Genes that Cause Male Infertility,

Dr. William Murphy, Texas A & M University - $2,500.

 

Grant 00748: SNP Association Mapping for Canine Epilepsy,

Dr. Ned E. Patterson, DVM PhD; University of Minnesota - $1,000.


 

2008

 

Grant 754A&B: Mapping of the Gene for Transitional Cell Carcinoma in the Scottish Terrier &

West Highland White Terrier.  Deborah Knapp, DVM, primary investigator.   Amount requested and donated: $2,500. 

(After this donation, Dr. Knapp agreed to include Shetland Sheepdogs in the study.)

 

Grant  1018A: Comparative Gene Discovery for Canine Cryptorchidism.  Max Rothschild, primary investigator. 

Amount requested and donated:  $730. 

(Dr. Rothschild, and agreed to include Shetland Sheepdogs in his study if we provided him with the DNA material.)

 

Grant 882A: Genetics of Cryptorchidism in Dogs.   Alexander Agoulnik, primary investigator.  Amount requested and donated: $1,000.

(Dr. Agoulnik agreed to include Shetland Sheepdogs in his study.)

 

 

Notice on Genetic Diseases in Shelties
updated August, 2010

Concerned breeders of Shetland Sheepdogs are striving to breed healthy Shelties and decrease the incidence of heritable
diseases in the breed. Hip dysplasia, thyroid disease, eye diseases, dermatomyositis (Sheltie Skin Syndrome), von Willebrand’s
disease (vWD), and epilepsy are some of the known health problems of the breed.  Although these problems are NOT
COMMON in the breed, the Board of Directors of the American Shetland Sheepdog Association (ASSA) recommends that
questions about the health of the dog and its relatives be asked when inquiring about the purchase of a puppy or adult, use of
a stud dog and/or the acceptance of a brood bitch.


Do the dog and its relatives have CERF and OFA or PennHIP numbers or an exam form signed by a qualified veterinarian for
these tests? Does the Sheltie (adult or puppy) or its relatives have any of the above mentioned problems? Questions should also
be asked about abnormal tooth alignment, missing teeth, and cryptorchidism (retained testicle).


The ASSA is NOT advising you not to buy a puppy or breed to a stud dog if these conditions exist, but wants puppy buyers and
breeders to be aware of genetic problems in the breed so that informed decisions can be made when buying or planning a
breeding.  The ASSA also encourages breeders to participate in the Canine Health Information Center (CHIC) program
www.caninehealthinfo.org/
(For specific information on Shetland Sheepdogs, see: www.caninehealthinfo.org/brdreqs.html?breed=SS ).

Canine Health Information Center (CHIC) Program for Shetland Sheepdogs
Updated, April 2011 (The ASSA joined the CHIC program, April 2008). *

Health problems, in general, are not common in Shelties; however, testing of breeding stock is a recommended practice to
keep the incidence of certain problems as low as possible. It must be remembered that dogs are animals, not machines, and
on average, every dog has 4 to 5 defective genes (1).   Congenital and/or hereditary problems will occur no matter how
conscientious a breeder is. Nonetheless, breeders should strive to breed Shelties that are a combination of beautiful breed type
and good health.

The Canine Health Information Center (CHIC) http://www.caninehealthinfo.org/ is a canine health database program
jointly sponsored by the AKC/Canine Health Foundation (AKC/CHF) and the Orthopedic Foundation for Animals (OFA).
Its purpose is to assist breeders in breeding healthy dogs and being a central resource of health information for breeders,
owners, and researchers. Over 100 breed clubs participate in the program. The national club for each participating breed
recommends health tests to be performed in dogs used for breeding. The number and types of tests are tailored to the needs
of each breed. Dogs that have had the required tests will receive a CHIC number, and the CHIC database can be searched
for dogs having CHIC numbers. Additional health tests may be recommended, but are considered optional for that breed.
Normalcy is not required for participation in the CHIC program; abnormal results of any test are only released to the public
with owner permission. As new tests become available, the list of required and optional tests may be altered.  Participation in
the CHIC program is voluntary.

Breed requirements for Shetland Sheepdogs are as listed below and on the CHIC Shetland Sheepdog web page.
www.caninehealthinfo.org/brdreqs.html?breed=SS

Required tests:

  • Hip dysplasia evaluation (OFA or PennHIP)
  • Eye clearance (Canine Eye Registration Foundation, CERF)

              Plus at least 2 from the elective test list below:

Elective tests:

  • von Willebrand's Disease (VetGen, test results registered with the OFA)
  • Multiple drug sensitivity (MDR1) DNA test (Washington State University, results registered with the OFA)
  • Autoimmune thyroiditis (OFA evaluation from an approved laboratory, test results registered with the OFA)
  • Collie eye anomaly DNA test (Optigen, test results registered with the OFA)
  • Elbow dysplasia evaluation (OFA)

Optional tests:

  • Congenital cardiac database (OFA evaluation by board certified cardiologist or internal medicine specialist)
  • American Temperament Testing Society, TT title, (test results registered with the OFA)


Brief Explanation of the Tests

Required tests:

Hip Dysplasia Evaluation – As of December, 2010, Shetland Sheepdogs ranked 138th of 160 breeds of dogs evaluated for hip
dysplasia by the Orthopedic Foundation for Animals (OFA) www.offa.org. Of 18,401 Shelties evaluated, 4.7% were
dysplastic. OFA certification or PennHIP evaluation of the hips (x-ray examination) is on the required list for the CHIC
program because hip dysplasia can be a crippling disorder, and one affected influential dog used in breeding programs
could increase the incidence in Shelties. OFA hip evaluation results are automatically included in the OFA database with
no extra charge. More information can be obtained by clicking on the following link http://offa.org/hd_info.html.

Eye Certification with the Canine Eye Registration Foundation (CERF) http://www.vmdb.org/cerf.htmlEye
abnormalities can occur at any age. Ophthalmic examination can detect a variety of congenital abnormalities, including
Progressive Retinal Atrophy (PRA) and Collie eye anomaly (CEA), which also occurs in Shelties. The merling gene may
make it difficult to detect mild cases of CEA by ophthalmic examination because merling is normally associated with less
pigmentation of the eyegrounds (back of the eye). Also, the CEA lesions (chorioretinal hypoplasia) in some mildly affected
dogs may be partially masked as the eye matures so may be missed at 8-10 weeks of age or later. Thus examination at an
early age, about 5-8 weeks of age, is recommended. Because the onset of other eye diseases (such as cataracts and retinal
degeneration) can occur at any age, dogs should be reexamined periodically.  A more detailed discussion can be found at:
 http://www.vmdb.org/dxspot.html.  Ideally, each dog should be examined within the preceding 12 mos. of being bred. According to
the link above, the likelihood of a genetic problem showing up after age 9 years is low. The test is an eye examination performed
by a board certified veterinary ophthalmologist. Results are automatically included in the OFA database with no extra charge.


Elective tests:

(In addition to the required tests above, at least 2 of the “elective tests” below are required for CHIC status)

von Willebrand’s Disease (vWD) DNA Test – vWD is a potentially serious bleeding disorder and one that can be kept
from being a major problem in the breed by having this one-time DNA test done.
According to the VetGen website (http://www.vetgen.com/canine-vwd3.html ), the incidence of vWD in Shelties as of
July, 2008 is: Clear – 90.3%, Carrier – 9.4%, Affected – 0.3%. Dogs “Clear By Parentage” (first generation - see OFA
website for detailed policy) would be accepted into the CHIC program. The test can be performed using DNA from
cheek brush collection that can be mailed-in by the owner.

 

Multiple Drug Sensitivity (MDR1 gene) DNA Test – This DNA test identifies dogs that are sensitive to several
medications. Shelties, Collies, Australian Shepherds, and Border Collies are a few of the breeds with this genetic mutation.
Several commonly used drugs, ex. antiparasitic drugs (some used in heartworm preventatives), tranquilizers (acepromazine),
and anti-diarrheal drugs (Imodium®) are a few of the drugs that may affect dogs with this genetic mutation. This test would
provide useful, practical knowledge for every Sheltie owner since knowing the status of each dog as clear, carrier, or affected
would help a veterinarian determine which drugs to use or avoid in a particular dog. As of March, 2008, 448 Shelties had been
tested (Washington State University) with 11% being heterozygous (carriers) for the MDR1 mutation, and 1 % homozygous for
the MDR1 mutation. A new database was started in 2010.  From July 1, 2010 to May, 2011, 272 Shetland Sheepdogs had been
tested with the following results: 235 (86.3%) MDR1 normal/normal; 37 (13.6%) MDR1 mutant/normal; 0 MDR1 mutant/mutant.
  Heterozygous dogs (carriers) exhibit sensitivity to drugs that is similar to or less than that of homozygous
(affected) dogs. A complete list of drugs that may affect dogs with the MDR1 gene can be found at the following link:
http://www.vetmed.wsu.edu/depts-VCPL/drugs.aspx.  More information on the topic can be found at
: http://www.vetmed.wsu.edu/depts-VCPL/ and http://www.ashgi.org/articles/mdr1.htm . Dogs “Clear By Parentage
(first generation - see OFA website for detailed policy) would be accepted into the CHIC program. The test can be performed
using DNA from cheek brush collection that can be mailed-in by the owner.

Autoimmune Thyroiditis – Autoimmune thyroiditis may lead to hypothyroidism. It is generally accepted that autoimmune
thyroiditis is inherited.
In 2008, the OFA website listed 2 sets of statistics for thyroid disease, all results coming to OFA regardless of the laboratory
doing the testing and also results coming from the Michigan State University laboratory.  At that time, breed results from the
Michigan State University Laboratory listed Shetland Sheepdogs as 24th of 140 breeds (in which 100 or more evaluations have
been performed) with autoimmune thyroiditis. Of 14,110 Sheltie evaluations, 12.7% were positive for autoimmune thyroiditis.
 As of 2011, only results coming from all laboratories are posted on the OFA website (www.offa.org/stats_thyroid.html ). 
As of May, 2011, Shelties are listed as 3rd of 89 breeds having at least 50 evaluations from January 1974 through December 2010. 
Of the 749 Shelties tested, 75.8% were normal and 13% had autoimmune thyroiditis.  From the OFA website, “Since the majority
of affected dogs will have autoantibodies by 4 years of age, annual testing for the first 4 years is recommended. After that, testing
every other year should suffice. Unfortunately, a negative result at any one time will not guarantee that the dog will not develop
thyroiditis.” A blood sample is needed for this test.  More information on autoimmune thyroiditis can be found at the following
links: http://www.offa.org/thy_info.html and. http://www.upei.ca/~cidd/intro.htm .

Collie Eye Anomaly (CEA or Choroidal Hypoplasia) DNA Test - CEA is a recessively inherited ocular anomaly that
affects development of a portion of the eye. Homozygous recessive dogs may have lesions ranging from mild to severe.
Heterozygous dogs will be phenotypically normal. Choroidal hypoplasia, coloboma, and retinal detachment are features of the
disease. It occurs in Shetland Sheepdogs as well as other herding breeds. The CEA DNA test can distinguish between normal,
carrier, and affected dogs. Unlike CERF examination, it is indifferent to the age of the dog or the presence of the merle gene.
The ASSA Research Advisory Committee encourages breeders to consider this test for their breeding stock to keep the
incidence of this problem as low as possible. A blood sample is needed for this test. This test is for CEA only, so CERF
examinations must still be performed to rule out other types of hereditary eye disease such as progressive retinal atrophy.
For an excellent discussion on the topic, see the following link www.optigen.com/opt9_test_cea_ch.html .

Frequencies Based on CERF Eye Exams in the U.S. from 1991 to 1999

Choroidal Hypoplasia

Coloboma

Retinal Detachment

Collies

66.7%

8.75%

1.88%

Border Collies

2.12%

0.57%

0.06%

Shelties

0.39%

0.79%

0.05%


CERF numbers may underestimate the prevalence of the CEA mutation, because of the difficulty of detecting the defect in
older dogs and the difficulty in diagnosing in a merled dog. Although the incidence of CEA in American Shelties is relatively
low, it occurs in European Shetland Sheepdogs in a significantly greater frequency. For this reason, it is recommended that,
at the very least, imported Shelties be tested for the CEA gene. Dogs “Clear By Parentage” (first generation - see OFA
website for detailed policy) would be accepted into the CHIC program.

As of July, 2008, OptiGen will send the CEA (Collie eye anomaly) DNA test results for Shelties automatically to OFA.
Only normal results will be made public unless an owner notifies OFA that he/she would like abnormal results to be posted.
The normal OFA fee of $15 to have the results posted will be discounted to $7.50 and collected by OptiGen. For more information
see: http://www.optigen.com/opt9_info.html.

Elbow dysplasia – Of breeds having 100 or more elbow evaluations, Shetland Sheepdogs rank 64th of 104 breeds with elbow
dysplasia. As of December, 2010 there have been 571 Shelties evaluated with 97% being normal. More information about elbow
dysplasia can be found at the following link: http://www.offa.org/ed_types.html.  Radiographs (x-rays) are required for this test.

Optional tests:

 

Congenital Cardiac Database – Many congenital cardiac defects have a genetic component, and nearly all common ones
produce audible murmurs that can be detected by a veterinarian using a stethoscope. Although not common in Shelties, such
defects have been found in the breed. OFA certification for the cardiac database is primarily based on examination by a
veterinarian using a stethoscope. Because some veterinarians are more experienced at detecting subtle murmurs than other
veterinarians, the ASSA Research Advisory Committee stipulated that the examination must be performed by a board certified
veterinary cardiologist or internal medicine specialist. Dogs must be 12 mos. of age to receive a certification number. As of
December, 2010, 88 Sheltie evaluations have been entered into the OFA database. More information can be obtained at the
following link: http://offa.org/cardiac_about.html.

American Temperament Testing Society, TT title - The “TT” title isn’t exactly a health test; however, some breeds do
include temperament testing in their CHIC test list, and since heredity does play a role in temperament, the ASSA Research
Advisory Committee included it on the optional list. Minimum age for a dog to take the test is 18 mos. As of March, 2011,
496 Shelties have been tested. The pass rate was 68.1%.   More information on the test can be obtained at the following
link: http://www.atts.org/about.html

(1). George A. Padgett, DVM, Michigan State University, Prioritizing Genetic Defects,
www.lgd.org/library/PadgettDefects.htm

(2) Canine inherited disorders database - http://www.upei.ca/~cidd/intro.htm

(3) From the OptiGen website: http://www.optigen.com/opt9_test_cea_ch.html

CHIC Program - Questions & Answers

May, 2008

1) For those dogs already meeting the requirements, how long do you think it will take before they show up on the site when one
does a search for CHIC Shelties? Within two weeks.


2) Will dogs that have had CERF examinations be included if the exams are out of date? Yes, as long as there is a CERF
report on file


3) Once a dog receives a CHIC number, he/she will remain on the CHIC list even if the CERF exam is out of date.
Is that correct? Yes, both the CHIC report and website will list WHEN the test was done, as well as the
cumulative CERF testing history


4) When submitting the results of the VetGen and MDR-1 tests, one should use the DNA application form
(http://offa.org/applications.html).  On that form, there is a space for a previous application number. What is that referring to?
Would the application number on the OFA certificate be it? Application number is the internal OFA assigned number

5) Is there a Clear by Parentage option available for both the vWD and the MDR-1 gene? The answer is yes. I believe
that point is noted on the CHIC webpage for Shelties and on the ASSA website. Concerning the Clear by Parentage
issue, I was unable to find any information on the VetGen website concerning the Clear by Parentage option.
It may be there, I just didn't find it. I do know that the option is discussed on the OFA website
http://offa.org/cbp.html .  The following is from that page:"For direct mutant gene tests only, the OFA will
issue clearances to untested offspring, if the sire and dam have both been DNA tested clear, if the sire and
dam’s DNA disease test results have been OFA registered, and if all three (sire/dam/offspring) have been DNA
identity profiled and parentage verified. The DNA profile paperwork must be submitted along with a completed
OFA DNA-based disease test application."


6) I had assumed that if the parents' results were registered by the OFA that the offspring would automatically be given the
CBP clearance if the owner submitted the appropriate form and fee, but after reading the above, I see that there are additional
requirements that, I think, will cause many owners to balk. Why not just accept that AKC registration papers are correct rather
than requiring DNA profiles of all 3 individuals? For the MDR-1 test, it would be cheaper to get the test done on the offspring
than to get the CBP done. Please let me know if I understand the situation correctly. The OFA Board discussed the
CBP policy at the spring 2008 board meeting, and decided the policy should stand.
The rationale is that the OFA is
going out on a limb and issuing the clearance to an untested dog. In doing so, the board wants absolute confidence
that the dog is in fact the offspring of the cleared parents. DNA profiling should not be viewed as a cost of the
clearance, but a regular cost of breeding dogs. Responsible breeders should be profiling their dogs regardless
for the integrity of the stud book.


7) Must a dog be permanently identified (tattoo or microchip) in order to have genetic test results posted on the OFA or CHIC
website? On the OFA submission form, there is a place on the form for a veterinarian to certify that the DNA
sample was correctly collected and that he/she had verified the permanent identification of the dog tested. If this is
not done, you can still submit the test results. The information may be listed as "no permanent identification"
as is done for hip reports. If a veterinarian does not sign the OFA DNA form that goes with vWD and MDR-1
test results, there is another form, "Verification of Permanent Identification"
http://offa.org/applications.html . It is
suggested that you download and read that form to understand why it may be required in some instances.

* When the ASSA joined the CHIC program in 2008, there were 4 required tests (Hip x-rays - OFA or PennHIP, Eye
clearance- CERF, vWD- VetGen, and MDR1 DNA test).  Requirements were changed as noted above May, 2011.

______________________________________________________________________________________________

The Shetland Sheepdog Health Survey
September 2008

The Shetland Sheepdog health survey is available through the generosity of the Orthopedic Foundation for Animals
(OFA), www.offa.org, and is the result of a collaborative effort between the OFA and the ASSA Research Advisory
Committee.  It became active October, 2008 and the data seen in the results section is cumulative since that time.  Anyone
owning a Sheltie may participate in the survey, and it it hoped that many owners will do so.  Owners may input information
for as many dogs as he/she wishes including information on normal and abnormal dogs, dogs already deceased and, of course,
those still alive.  If information changes for a dog already in the system, just re-enter that dog with the new information. 
Eventually, the numbers of dogs in the system will be so great that additional information on a dog already in the system
will not make a significant difference in the overall percentages.  This will not be a scientifically accurate survey, but it should
give us a general idea of which health problems are more common and will guide us in selecting research projects for future
support.

The first time you try to enter a dog into the Health Survey, consider clicking on all of the disease categories for the question:
"Has your dog been diagnosed with any of the following health issues?", so you can see all of the options.  A problem might be
located in a different section than where you thought it might be.  For instance, the MDR-1 genetic mutation is listed under
"Neurologic disorders" since many of the adverse reactions associated with that trait cause neurological symptoms.  If you dog
doesn't have any problems in a given section, just leave that section blank.  After you become familiar with the options, you
can just click on the appropriate disease categories when entering additional dogs.  

 _____________________________________________________________________________


CHIC DNA Repository

 

The CHIC DNA Repository is co-sponsored by the OFA and the AKC/Canine Health Foundation. Its purpose is to collect and store
canine DNA samples along with pedigree and phenotypic information to facilitate future research and testing with the goal of
reducing the incidence of inherited disease in dogs. The ASSA Board of Directors encourages participation in this DNA bank.
For more information, visit: http://www.caninehealthinfo.org/dnabank.html.

  

______________________________                                                                                                            

              

Current Research Projects

____________________________________________________________________________________________________

 Research on Canine Cancer
   

Updated January, 2012.   Initially posted April, 2010

This work is supported by the AKC Canine Health Foundation.  To see how you can help by
submitting samples please  see: http://www.vai.org/Research/Labs/CancerAndDevelopmentalCellBiology/chcc.aspx
 
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The Van Andel Research Institute, a world class human cancer research institute, recently received a Federally fund
grant through the National Institutes of Health/National Cancer Institute, to study   several types of cancer that occur
in both dogs and humans. The ultimate goal is to develop improved diagnostics and more individualized therapies for
both canines and people.

“We are requesting the help of purebred dog owners, who may own a dog affected with one of these cancers.  We
are focusing our efforts on unraveling the genetic causes of several cancers, including but not limited to:
hemangiosarcoma, osteosarcoma, melanoma, malignant histiocytic sarcoma, and lymphoma.


If your dog is afflicted with cancer and you would like to donate samples, please contact us at 616-234-5569 (phone)
or 616-234-5795 (fax) or send us an email (CHCC@vai.org).

You can also help support this research by donating funds to support the CHCC.”

Again, more information about the research and information for owners and veterianrians
can be found at: www.vai.org/helpingdogs

                                                                                                                                    

                   
Epilepsy

Updated June 2012 (1st posted on August, 2010)

Epilepsy (repeated seizure episodes) occurs in many animal species including dogs.  There are many causes, but when the cause is unknown, it is characterized as “idiopathic” epilepsy.  Heredity likely plays a role in many dogs with idiopathic epilepsy.  The typical age of onset of seizures in dogs with idiopathic epilepsy is 1 to 3 years.  Although epilepsy is not as common in Shelties as in some other breeds, the ASSA supports research that might result in a DNA test to identify epilepsy-causing genetic mutations if they exist in the breed.  The Canine Epilepsy Research Consortium (also known as the Canine Epilepsy Network) is a group of scientists who have agreed to collaborate in research efforts to identify epilepsy-causing genetic mutations in dogs.  Their work is supported by the AKC Canine Health Foundation, National Institutes of Health (NIH), individual breed clubs and private donations.  The ASSA has supported several of the projects including:The Mapping and Characterization of Canine Epilepsy Loci, AKC Canine Health Foundation Grant: 762, Dr. Gary S. Johnson, DVM, PhD, College of Veterinary Medicine, University of Missouri.  SNP Association Mapping for Canine Epilepsy, AKC Canine Health Foundation Grant: 748, Dr. Ned Patterson, DVM PhD, College of Veterinary Medicine, University of Minnesota. Identification of Idiopathic Epilepsy Genes in Australian Shepherds, AKC Canine Health Foundation Grant1615:  Dr. Ned E. Patterson, DVM PhD; University of Minnesota
Project Goal: This research group aims to identify the genetic mutation associated with epilepsy in Australian Shepherds and develop a DNA based test to identify affected dogs and aid in diagnosis.  After identifying a mutation, the researchers will also test to see if the mutation(s) affect other dog breeds with a high incidence of epilepsy.
View Grant 1615 How can you help?  If you have a Sheltie with epilepsy, you can provide DNA samples of the affected dog and its relatives.  Participation by dog owners is essential for the success of the research.  To learn more about the canine epilepsy research and how to participate, go to: www.canine-epilepsy.net/basics/basics_index.html and click on “Canine Epilepsy Project”.  Please note: Although the “Progress to Date” section gives the numbers as of January 28, 2011, the work is STILL active.  The information just has just not been updated since then.  Owners wishing to submit blood samples from Shelties for this project may be eligible for prepaid shipping labels courtesy of the ASSA Foundation.  To request a prepaid label, contact Liz Hansen, Laboratory Coordinator, at the University of Missouri: HansenL@missouri.edu, 573-884-3712, or regular mail (321 Connaway Hall, University of Missouri, Columbia, MO 65211).

The Canine Epilepsy Network, www.canine-epilepsy.net/index.html, is an excellent website with understandable information about epilepsy, its causes, treatments, and living with epileptic dogs.  After accessing the main page, click on “Canine Epilepsy Basics”.



Investigations into the Genetic Mutations Causing Two Different Dental Anomalies in Shelties
You can download the articles and pictures in their entirety by clicking on the title under
"Current Research Projects" at the top of this site.


“Lance” Canine Teeth and Abnormal 3rd Incisor Teeth

        January, 2010 still active as of May, 2012

Dr. Gary S. Johnson of the Animal Molecular Genetic Laboratory, Department of Pathobiology, the College of
Veterinary Medicine, The University of Missouri, has graciously agreed to search for genetic mutations underlying
two different dental anomalies that occur in Shelties.  Dr. Johnson’s research group has been the recipient of several
AKC Health Foundation research grants, and this group is actively working on identifying the underlying genetic causes
of various conditions in several breeds.  One of the recent breakthroughs was identification of a genetic mutation
responsible for degenerative myelopathy, a progressive condition causing irreversible paralysis, in Welsh Corgis,
German Shepherd Dogs, and other breeds.  Their work has resulted in DNA tests that can be used by breeders.   

The two dental conditions (“lance” canine teeth, and abnormal upper 3rd incisor teeth) are described below.
Participation of Sheltie breeders and owners are essential to the success of these studies.


The Rostrally Displaced, “Lance”, Canine Teeth in Shetland Sheepdogs

Description of the anomaly written by Mary Mahaffey, DVM, Chair, ASSA Research Advisory Committee

Background: A rostrally displaced maxillary (upper) canine tooth is one in which the adult canine tooth is displaced
forward toward the nose (rostrally) so that it comes in contact with the 3rd incisor tooth, and it is located in front of
  the mandibular (lower) canine tooth rather than behind as is should (Figs. 1 & 2).  The long axis of an affected tooth
is more parallel to the hard palate rather than nearly perpendicular as for a normal canine tooth.  In some dogs, the lance
canine tooth can be so horizontal that the tip rubs on the upper lip.  The deciduous (baby) canine teeth of affected dogs
are normally positioned; however, the abnormal position of a lance canine tooth becomes evident as the adult tooth erupts.
Because an affected tooth points forward like a lance or spear, it is commonly called a lance canine tooth.

The abnormal position of a lance canine tooth may prevent the mouth from closing completely, and may force the lower
canine tooth to point outward causing the tip to rub the inside of the upper lip potentially causing ulceration.  Also, food
and tartar tend to accumulate between the lance canine tooth and the adjacent incisor tooth increasing the likelihood of
periodontal disease between the two teeth.  Although treatment is not required in all affected dogs, therapy is necessary
in some.Treatment alternatives include extraction or crown shortening of the affected canine tooth and orthodontic
repositioning which can cost several thousand dollars.

The condition is more commonly seen in Shetland Sheepdogs than other breeds and is considered to be heritable, so
affected dogs should not be bred.  The goal of this study is to identify gene(s) causing lance canine teeth and to develop
a DNA test that can be used to identify adult carriers and affected puppies before the adult teeth erupt.


Fig. 1A                                                                                                                    Fig. 1B

IMG_6157a.jpg                      IMG_6160a.jpg

Fig. 1A&B.  Photos of the left (A) and right (B) sides of the mouth of a 4-year-old Shetland Sheepdog with a lance left canine tooth.
The left upper canine tooth is displaced forward so that it is in front of the lower canine tooth and its tip touches the upper 3rd incisor
tooth.  Compare to the normally positioned right upper canine tooth in which the lower canine tooth is in front of the upper one. 
The right upper 2nd premolar tooth is absent.  Periodontal disease between the lance canine tooth and the adjacent incisor tooth
was avoided by daily tooth brushing.

left

Fig. 2: A young Sheltie with a lance left upper canine tooth that is in the process of erupting.  The forward position of the
abnormal tooth is more severe than that of the dog in Figure 1.  The abnormal position of this tooth was so extreme that
orthodontic repositioning was not a treatment option.  The tooth was removed surgically and bone grafting was necessary
to close the communication between the nasal cavity and the space occupied by the tooth root.


What is needed for this study:

  • Blood samples from two groups of dogs -
    • Shetland Sheepdogs with lance canine teeth (either one or both canine teeth affected)
    • Close relatives (siblings, sire, or dam) of one of the above dogs with normally positioned canine teeth.
    • The goal is to obtain blood samples from at least 25 dogs in each group. 
  • Pedigree of the above dogs or copy of the registration certificate.
  • If possible, either hard copy or digital photographs of the right and left sides of the upper canine teeth.
  • Completed Individual Dog Information & Survey Form (see below link).

 

All genetic and contact information collected for each dog will remain confidential.  Specifically, your participation in
the study, your dog’s pedigree, health information you provide, and any data obtained from your dog’s DNA sample
will not be disclosed to any breeders, ASSA Club personnel, or to the AKC.

Thank you in advance for your time and effort.  The sample you provide will be instrumental in helping to identify the
genomic mutations associated with lance canine teeth.  It is hoped that this study will lead to a genetic test for lance
canine teeth that can be used by breeders to decrease the incidence of the problem in Shelties and identify affected dogs
at a very early age.  The work would not be possible without your participation and dedication to this wonderful breed. 

 

Click on this link for information on sample submission and the Individual Dog Information & Survey Form.

Please contact Liz Hansen, Laboratory Coordinator, by phone (573-884-3712) or e-mail  (HansenL@missouri.edu)
with any questions or concerns you may have. 

                        

                                                                      NEW INFORMATION

The ASSA Foundation has donated funds to cover the cost of overnight shipping of blood samples for this research project! 

To request a prepaid FedEx shipping label, send an e-mail request to Liz Hansen, Laboratory Coordinator, at the University of Missouri with the following information:  

Shipper’s name    Complete address (street, city, state, zip code)    State that the label is for shipping a blood sample for the Sheltie Lance Canine Tooth Study

Labels will be sent by regular US mail, so it is best to plan ahead at least a week or two to allow for the label to arrive before collecting the sample(s).  If you are sending

a sample of a normal dog, please make sure that a blood sample from an affected relative (offspring or sibling) will also be submitted (not necessarily in the same shipment).

Email request to: HansenL@missouri.edu

Call 573-884-3712 with any questions.

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Investigation of Abnormal Upper 3rd Incisor Teeth in Shetland Sheepdogs
Description of the anomaly written by Mary Mahaffey, DVM, Chair, ASSA Research Advisory Committee

Background:  Over the years, Sheltie breeders have occasionally observed Shelties in which one or both of the upper
3rd incisor (I-3) teeth in adult dogs are different in size, shape, and position than normal adult I-3 teeth.1 (The I-3 teeth
are the incisor teeth adjacent to the canine teeth). 


In affected Sheltie puppies, only 4 - to 5 upper incisor teeth are present at 4 wks rather than the normal
number of 6.  The central 4 incisors are present, but one or both I-3 teeth may be absent (Fig. 1 A&B).  
Around 12 – 16 wks of age, abnormal I-3 teeth erupt in most affected dogs; however, these teeth are larger than normal
deciduous teeth, but smaller than normal adult incisor teeth.  When erupted, the abnormal I-3 teeth may point outwardly
and some may be rotated 90 degrees, as shown in Figs 2 B&C, 3C, & 4.  The abnormal I-3 teeth may be retained
indefinitely or may be shed months or years later.  If shed within a few weeks of eruption, normal adult I-3 teeth may
replace the abnormal ones; however, in older dogs, normal adult incisor teeth never appear.

Owners and judges may not recognize the presence of these abnormal I-3 teeth since they are similar to, but slightly
smaller in size than, the central four incisor teeth.    However, there are distinct differences in the appearance of the
abnormal and normal adult I-3 teeth.

Normal adult upper I-3 teeth (Fig 3A):

  • The distal tips point down and backward toward the tips of the upper canine teeth.
  • They are larger than the other maxillary incisor teeth.
  • The caudal margins (surfaces that normally face the adjacent canine teeth) are smooth.

Abnormal upper I-3 teeth:

  • The distal tips point outwardly (Fig 2 C) and somewhat forward (not toward the canine teeth).
  • They are similar in size or slightly smaller than the other adult maxillary incisor teeth, but they are larger than
    normal deciduous (baby) I-3 teeth.
  • The caudal surfaces are notched (Fig 1B). 

                  Thus, the abnormal I-3 teeth have features of deciduous teeth, but they are larger than normal deciduous
teeth and rarely followed by normal adult teeth.  I am aware of one Sheltie in which an adult tooth erupted within the
hard palate behind the abnormal I-3 tooth.

                  What is known about the inheritance of this trait is that affected dogs and normal appearing dogs (with an
affected parent) when bred to normal ones (that probably don’t carry the trait), both normal and abnormal pups are
produced.  Unless one is knowledgeable about whether or not this trait is present in the relatives of a normal dog, one
cannot tell by phenotype if the dog is a carrier.

                  Why bother trying to develop a DNA test for this trait?  The good news is that the condition, in most dogs,
is cosmetic, rarely requiring surgical correction or interfering with function of the dog like other conditions such as hip
dysplasia.  However, the teeth are definitely abnormal and the trait has not been reported in other breeds to my knowledge.
Empirically, the number of affected dogs in the show population is increasing as are reports of Shelties with missing incisors
(only 4 adult central incisors with no deciduous I-3 precursors ever appearing), and dogs with missing 2nd upper incisor teeth.
Perhaps, breeding 2 carriers or affected individuals would result in a greater number of missing incisor teeth.  If breeders are
unaware of the condition and the number of affected dogs continues to increase, the condition could become so prevalent that
it would be impossible to eliminate or to keep it at a low prevalence.  Superior individuals carrying the trait may well be
desirable for a breeding program, and a DNA test for this anomaly would give breeders a mechanism for identifying normal
appearing carriers, thereby allowing them to use that information in breeding decisions.  


6591a.JPG  

                              

 

 

 

 

Fig. 1 A – Six week old Sheltie pup with missing right upper 3rd incisor tooth.

 

6589 a.JPG                                                                                                                                               

 

 

 

 

Fig. 1B – above Same pup as in Fig. 1A.

 

right a1.jpg

left - b 1.jpg

front c arrow.jpg

Fig. 2: A – top, B – middle, and C –above of the upper incisor teeth of a 15 wk old Sheltie.  Arrows point to the 3rd incisor teeth. 
A – normal 3rd incisor tooth.  B – abnormal 3rd incisor tooth that is rotated.  Its tip is directed forward.  C – The tip of the abnormal
left 3rd incisor tooth (arrow) is pointed more outward than that of the normal right 3rd incisor tooth.  The left upper I-3 tooth was
missing at 6 wks of age and the abnormal tooth started to erupt at 12 wks of age.


right w arrow.jpg

 

 

 

 

 

 

Fig. 3A - C: 10 mo old Sheltie with an abnormal left upper 3rd incisor (I-3) tooth.  Same dog as in Fig. 2.

(3A) – The right upper I-3 tooth (arrow) is normal.  Notice that the I-3 tooth is larger than the central incisor teeth,
the caudal margin is smooth, and the tip points slightly backward toward the tip of the upper canine tooth.

 

left.JPG

 

 

 

 

 

 

 

 

(3B) – The left upper I-3 tooth is abnormal.  The tooth is smaller than the other incisor teeth, and there is a notch (arrow)
in the caudal margin.  In this dog, the tip of the I-3 tooth points slightly backward; however, in many affected dogs, the tip
is directed more forward than seen in normal I-3 teeth.

 

front.JPG

 

 (3C) - View of the front of the incisor teeth.  Notice that the left I-3 tooth
(black arrow) is smaller than the right and its tip is pointed more outward than
that of the right I-3 tooth (white arrow).  Incidentally, several of the lower incisor
teeth extend more forward than normal.

 

 

 

teeht6.JPG

Fig 4 –Sheltie with an abnormal upper left 3rd incisor tooth (I-3) that is smaller than the other incisors (I-1, I-2) and abnormally
positioned so that the tip points outwardly.  The upper right 3rd incisor tooth is absent.  (canine = canine tooth).

1 Curry, Barbara A: Missing and crooked teeth. Sheltie International 13: 90, 1994.

 

What is needed for this study:

  • Blood samples from two groups of dogs -
    • Shetland Sheepdogs with abnormal upper I-3 teeth as described above (either one or both I-3 teeth affected)
    • Close relatives (siblings, sire, or dam) of one of the above dogs with normal upper I-3 teeth.
    • The goal is to obtain blood samples from at least 25 dogs in each group.
  • Pedigree of the above dogs or copy of the registration certificate.
  • If possible, either hard copy or digital photographs of the right and left sides of the upper incisor teeth.
  • Completed Individual Dog Information & Survey Form (see below link).

 

All genetic and contact information collected for each dog will remain confidential.  Specifically, your participation
in the study, your dog’s pedigree, health information you provide, and any data obtained from your dog’s DNA sample will
not be disclosed to any breeders, ASSA Club personnel, or to the AKC.

Thank you in advance for your time and effort.  The sample you provide will be instrumental in helping to identify the genomic
mutations associated with abnormal upper I-3 teeth.  It is hoped that this study will lead to a genetic test that would give breeders
a mechanism for identifying carriers and allow them to make informed breeding decisions regarding this trait.  The work would
not be possible without your participation and dedication to this wonderful breed. 

 

Click on this link for information on sample submission and the Individual Dog Information & Survey Form.

 

                                                                   NEW INFORMATION

The ASSA Foundation has donated funds to cover the cost of overnight shipping of blood samples for this research project! 

To request a prepaid FedEx shipping label, send an e-mail request to Liz Hansen, Laboratory Coordinator, at the University of Missouri with the following information:  

Shipper’s name    Complete address (street, city, state, zip code)    State that the label is for shipping a blood sample for the Sheltie Lance Canine Tooth Study

Labels will be sent by regular US mail, so it is best to plan ahead at least a week or two to allow for the label to arrive before collecting the sample(s).  If you are sending

a sample of a normal dog, please make sure that a blood sample from an affected relative (offspring or sibling) will also be submitted (not necessarily in the same shipment).

Email request to: HansenL@missouri.edu

Call 573-884-3712 with any questions.

 

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Dermatomyositis (DM)

Description of the condition:

“DM (dermatomyositis) is a devastating genetic disease of the skin and muscle, which afflicts Shetland Sheepdogs, Collies
and their crosses. The skin lesions consist of hair loss with or without skin redness, scaling and crusting of the face, ears,
legs/feet and tail tip. One or more of these areas of the body may be affected. In addition, some dogs may have muscular
involvement.  …. Shetland Sheepdogs are fortunate because the muscle involvement is relatively rare. Stress, such as that
associated with the hormone fluctuations of heat cycle, will make the symptoms of DM worsen. Intact females appear to be
more subject to hormone related stresses than intact males. Stress of travel, moving or family upsets may also make symptoms
worse. The only way to diagnose DM is with a biopsy.”  Sherry Lindsey, RN BSN, www.shalaine.com/DM/DM.html
 

Canine Health Foundation podcast of interview with Dr. Leigh Anne Clark concerning dermatomyositis:

http://www.akcchf.org/news-events/multimedia/podcasts/dermatomyositis.html


Dermatomyositis (DM) Research - A Search for Potential Genetic Cause

 

May, 2013 Update

Exciting news!  PLEASE SPREAD THE WORD!

 

Dr. Leigh Anne Clark of Clemson University recently received word that her research grant proposal regarding dermatomyositis (DM)

has been funded by the National Institutes of Health (NIH) for over $200,000!

Here is a link to the NIH site with the project details:

http://projectreporter.nih.gov/project_info_description.cfm?aid=8433553&icde=16397110&ddparam=&ddvalue=&ddsub=&cr=1&csb=default&cs=ASC

It is imperative that Sheltie owners help Dr. Clark by submitting blood samples from DM affected AND healthy control Shelties.  

Below is the call for DNA samples:


The Canine Genetics Laboratory at Clemson University is conducting research into the genetic component of DM in Shelties. 

DM is a devastating dermatologic condition that most commonly affects the skin and/or muscles.  Currently the lab is in need of:

  • Blood samples from DM affected Shelties, along with a copy of the diagnostic biopsy report.  Pedigrees are also requested whenever possible.
  • Blood samples from Shelties that are 10 years of age or older, are free from any skin conditions, and have no known family history of DM.  Pedigrees are also needed.
  • A billing number will be provided to cover FedEx shipping of the sample.
  • All participation is confidential.

Please email Jacquelyn Evans at jacquee@clemson.edu if you are interested in participating in the study,

and she will give you instructions for sample collection and shipping.  This is the preferred method of contacting Ms. Evans. 

Other contact information if needed:

Dr. Leigh Anne Clark
154 Poole Agricultural Center

130 McGinty Court

Department of Genetics and Biochemistry
Clemson University
Clemson, SC 29634-0318
(864) 656-4696

 

 


March, 2011 Update

 

Dr. Christine Rees, Dr. Leigh Anne Clark, and Dr. Keith Murphy have done much of the research
investigation concerning DM at Texas A & M University.  The ASSA, through the ASSA Foundation,
has made generous donations toward their research.   The Collie Health Foundation has also been a
major supporter of their work.   Dr. Rees is now in private practice in Texas.   Drs. Clark and Murphy
are now working at Clemson University, Clemson, SC.  The research has resulted in at least 2 scientific
publications (1, 2).  The current research on DM is now being done in Dr. Clark’s laboratory.

 

Research has shown that DM is not an autosomal recessive trait.  It is a complex disorder which will
require many more DNA samples from affected and normal dogs than would be needed if the condition
were an autosomal recessive one. 

 

Dr. Clark is working with the Collie Health Foundation and plans to scan the entire collie genome for
genetic variants that may be associated with DM.  She believes that the genetic bases of DM in Collies
will likely be similar to those in Shelties.  She is able and willing to underwrite the cost of processing
blood samples from normal and affected Shelties and store the DNA for future DM research.

 

To generate additional data for Sheltie DM research using the canine SNP array, the Dr. Clark has
requested blood samples from 2 groups of Shelties:

  • Blood samples from DM affected Shelties, along with a copy of the biopsy report confirming the
    diagnosis), include AKC registration number (if available).
  • Unaffected Shelties – 10 years or older, must have no history of focal hair loss or any skin condition,
    not related to a known DM dog, include AKC registration number (if available).

Currently, Dr. Clark has DNA samples from a total of 22 DM affected and 14 older normal Shelties.
Ideally, she would like to acquire DNA samples from 50 dogs in each group, so more blood samples
are needed.  Dr. Clark will cover the sample shipping cost and the cost of isolating and storing
the DNA.
The owners would have to pay for costs associated with blood collection; however, many
veterinarians will collect the blood at no charge if they understand that it is for research.  In 2010, $5,000
was donated by the ASSA Foundation to help defray the cost of sample shipping and processing.A
minimum of 3mls of whole blood in a purple-top tube is needed. The blood should be shipped with
cooler packs, preferably 2nd day. Samples should not be shipped when they will arrive over a weekend
or a holiday. They can be stored in a regular refrigerator until they can be shipped. The owner's name,
pet's name, DM status and collection date should be clearly labeled on the tube.  Please include owner
contact information (email) in case Dr. Clark has any questions.

Mail to: 

Dr. Leigh Anne Clark
Clemson University
51 New Cherry Rd
319 BRC bldg
Clemson, SC 29634-0318
Phone: 864-656-4696

Email: lclark4@clemson.edu

Please support this important research by submitting blood samples and through monetary donations.
 Those owners with older unaffected Shelties should be able to help reach the goal of samples from
36 more dogs.

Donations to the ASSA Foundation to fund DM research would be greatly appreciated.  The cost
of evaluating DNA samples is approximately $400 – 500/dog.  For more information on the ASSA
foundation, go to:  http://assa.org/foundation.html .

 

(1) Wahl JMClark LASkalli OAmbrus ARees CAMansell JLMurphy KE: Analysis of gene
transcript profiling and immunobiology in Shetland sheepdogs with dermatomyositis. Vet Dermatol.
 2008, 19(2):52-8. www.ncbi.nlm.nih.gov/pubmed/18336421

 

(2) Clark LA, Credille KM, Murphy KE, Rees CA: Brief communication, Linkage of dermatomyositis
in the Shetland Sheepdog to chromosome 35. Vet Dermatol. 2005, 16:392-394. 
http://www3.interscience.wiley.com/journal/118705211/abstract

 

Dermatomyositis Research - New Treatment Study

Updated, February, 2010

While at Texas A & M University, Dr. Christine Rees investigated the use of Dapsone as an alternative treatment to Trental (pentoxifylline) for dogs with DM.

Dapsone is an oral medication found to be effective in the treatment of DM in humans.  The following is a report from Sherry Lindsey RN BSN on the results

of the study.  Sherry has worked closely with the researchers at Texas A & M and has maintained an extensive website on DM in Shelties.

“The best treatment option for DM symptoms continues to be Trental or pentoxifylline.  It is recommended that brand name be used rather than generic. 

The dose used in the study is 25 to 30 milligrams per kilogram of body weight every 12 hours given by mouth and always with food.  These tablets have

been successfully split when used in treating the DM study dogs. Dapsone was also studied and could be used as an alternative in those rare dogs

who do not tolerate Trental. The Dapsone dose in the study was 1 milligram per kilogram of body weight every eight hours, given by mouth.  However,

several dogs did well after being on the Dapsone for a month or two at 1 milligram per kilogram of body weight every 12 hours, by mouth.”

Contacts for DM information/questions:

Sherry Lindsey RN BSN is a longtime Sheltie breeder who assisted Dr. Rees in all of the DM studies and housed and cared for the DM study dogs. 

She is happy to answer any questions concerning DM and may be reached at shalainetx@aol.com.  A website with DM information, including photos

of DM affected dogs, may be found at www.shalaine.com/DM/DM.html

                                                       _____________________________________________________________________

Undescended Testicles (Cryptorchidism) Research

November, 2008, Updated May, 2009, March 2011

 

              There are 2 research groups studying the problem of cryptorchidism (retained testicles) in Shelties.  Both research projects are sponsored by the Canine

Health Foundation and the ASSA.  Although both studies concern the same topic, the investigators are using different approaches to study the problem.  Breeders

are urged to contribute to both studies if possible.

              Dr. Agoulnik, of the Department of Human and Molecular Genetics, College of Medicine, Florida International University (previously at Baylor Medical School),

 is using a “global” approach to find genes associated with cryptorchidism by looking at larger strands of DNA to find an association with the trait and further pinpointing

the genes from there.  Because he needs a large quantity of good quality DNA for his work, he must use blood samples or testicular tissue rather than DNA collected using

cheek brushes.  (Canine Health Foundation Grant No. 882-A)

              Dr. Rothschild, a geneticist at Iowa State University, (Canine Health Foundation Grant No. 1018-A and 1248) has been studying cryptorchidism in species other

than dogs.  He is looking to see if the genes that cause the problem in man, pigs, and mice also are associated with the problem in dogs.  The fact that DNA from cheek

brush samples can be used for this study makes it easy for owners to collect the DNA samples themselves.

              Both studies are described below:                                                          

__________________________________________________________________________________________________________________________________

 

Undescended Testicles (Cryptorchidism) Research*

Canine Health Foundation Grant No. 882-A

 
              Cryptorchidism or retained testicles is the most common birth defect in purebred dogs. Two major health consequences of cryptorchidism are infertility at

adulthood and significantly increased risk of testicular cancer.  Because of the cancer risk, the retained testicles should be removed.  Currently, there is no genetic

diagnostic test to predict the risk of this disease in a dog’s progeny. The main objective of this study is to develop a DNA test that may predict the risk of a dog

to produce cryptorchidism in its male offspring.  Blood samples or tissues samples (testicles) removed during surgery from cryptorchid dogs and their normal

littermates are needed for the current DNA research sponsored by AKC CHF.  The information generated by this study can be used to identify animals with the

mutant gene and thus will provide breeders with informative breeding recommendations.

Samples are needed from cryptorchid Shelties and their normal male littermates.  (Samples from normal male littermates are not required, but would be helpful.)

Material needed for participation: 

  • 2-6 cc of whole blood in purple topped EDTA tubes or
  • Frozen testicular tissue removed during castration
  • AKC registration number and/or pedigree
  • Consent form (obtained from Dr. Agoulnik)

This should all be sent over night with a cold pack to:

Alexander I. Agoulnik, Ph.D.

Professor

Department of Human and Molecular Genetics,

College of Medicine

Florida International University

11200 SW 8th Street, HLS I 327

Miami, Florida 33199

Telephone: (305) 348-1483

E-mail: aagoulni@fiu.edu 


Prior to collecting the samples, please notify Dr Agoulnik to request the consent form and shipping instructions. If you explain the purpose of the

blood draw, most veterinarians will draw the blood sample at no charge or for a reduced amount.  The study will pay for shipping costs.

We sincerely thank everybody who helps with our research aimed to benefit all dog breeders.

*As of March, 2011, Dr. Agoulnik has received DNA samples from 6 Shelties.  His study is “on hold” for now because of deficient funding.  He

anticipates that new techniques to evaluate DNA samples will greatly reduce the amount of money needed to complete the work in the next year or

two.  In the meantime, he will store the samples for future use.

________________________________________________________________________________________________________________________ 

Comparative Gene Discovery for Canine Cryptorchidism**

 

Canine Health Foundation Grant No. 1248  

Click here to read the December, 2010 research summary for grant 1248

Dr. Rothschild, the primary investigator, is a geneticist at Iowa State University.  He has been studying cryptorchidism in species other than canine.

  He is looking to see if the genes that cause the problem in man, pigs, and mice also are associated with the problem in dogs.  He is currently working

with Siberian Huskies but is banking DNA from other breeds.  After being contacted by the ASSA Research Advisory Committee, he agreed to include

Shelties in his study.  He would be greatly appreciative and could put the samples to good use.  Because obtaining sufficient samples from the right sets

of dogs (see below) has been a slow, time consuming process with the Siberian Huskies, he asked that one of the ASSA representatives collect the

samples and then send them to him once the needed numbers have been obtained.  Mary Mahaffey, DVM is willing to take the lead on this.  This is

what is needed for the study:

  • Cheek brush DNA samples from 20 groups of the following:  sire, dam, at least one normal male pup and one cryptorchid pup.
  • (Grandparents would be good also if obtainable).
  • Pedigree of the puppies.

The fact that cheek brush samples rather than blood samples are used in this study makes it easier to obtain the samples as owners can collect the

DNA themselves.  Obtaining 20 combinations as described above may not be easy, but can be done.  DNA collected on cheek brushes can be kept

indefinitely as long as the brushes are dry and kept in paper envelops.  Once 20 of the above combinations are obtained, all will be sent to Dr. Rothschild at

the same time.  

If the owners wish to keep the information confidential, put all the materials for each litter in a large envelope and indicate on the outside of

the envelope that DNA samples of the sire, dam, affected and unaffected male offspring are included inside (without listing the dog names). 

Then put that envelope inside a larger one and mail it to Mary Mahaffey, DVM at the address below.

To participate in the study, contact Mary Mahaffey and she will send you DNA collection kits and instructions. 

Mary Mahaffey, DVM

1611 Cedar Road

Watkinsville, GA 30677

E-mail address: lastly3345@bellsouth.net

**As of March, 2011, Dr. Rothschild is still interested in studying DNA samples from Shelties if the required number of sets as noted above

is obtained.  Several sets have been collected, but more are needed. 

 

                                                      ________________________________________________________________________________

Investigation of Gallbladder Disease and Hypercholesterolemia in Shetland Sheepdogs*
March 2008, Updated December, 2008, May 2009, November 2009, August 2010, March 2011, January 2012

January 17, 2012


Update on gallbladder mucocele research – no DNA test in the near future.

Mary Mahaffey, DVM, Chair ASSA Research Advisory Committee


Dr. Katrina Mealey has followed up on her original research identifying a genetic mutation

associated with gallbladder mucocele formation in Shelties, by evaluating the effect of the mutation on the formation of mucoceles

in additional breeds of dogs. She evaluated DNA samples from multiple dog breeds for the presence or absence of the genetic

mutation that has been associated with the formation of gallbladder mucoceles in Shelties (Mealey, et al. 2010). The number of

samples studied was much larger than those used in the original work on Shelties. As in the earlier study, samples from dogs

with and without (control dogs) gallbladder mucoceles were evaluated; however, the “control” dogs in the more recent study

were age-matched, but not exclusively older, normal dogs as were used in the Sheltie only study. The controls in the more recent

study included dogs that had diseases other than gallbladder mucoceles.

The results of the more recent work were less definitive than the 1st study, as there were some false positives and false

negatives: some dogs had the diagnosis of gallbladder mucoceles that did not have the genetic mutation (false negative)

and others had the mutation without the diagnosis of gallbladder mucoceles (false positive). As a side note, no dogs with 2

copies of the mutation have been found which suggests that 2 copies of the mutation may be lethal and such affected dogs

die in utero or shortly after birth.


Potential explanations for dogs with the mutation, but without the diagnosis of mucoceles include:

1) Some of these dogs were just not old enough to have developed mucoceles and may have done so at a later date.

2) The genetic mutation detected in the earlier study, by itself, may not be sufficient to cause development of mucoceles

in dogs. Perhaps, more than one gene is needed for mucoceles to develop or other factors in combination with the mutation

are needed for mucoceles to form. For instance, Cushing’s disease, corticosteroid therapy, and or the presence of hypothyroidism

must be present in conjunction with the mutation for mucoceles to form in dogs.

3) An additional mutation may be necessary for the formation of mucoceles.

Potential explanations for dogs having the diagnosis of gallbladder mucoceles without having the genetic mutation include:

1) The mutation found in the earlier study may not be the only mutation that may contribute to the formation of mucoceles.

2) Other factors such as Cushing’s disease, corticosteroid therapy, hypothyroidism, hypercholesterolemia, etc. may contribute

to the formation of gallbladder mucoceles without the presence of the mutation (Aguirre, et al. 2007, Mesich, et al, 2009, Kook, 2011).

3) Perhaps the diagnosis of gallbladder mucoceles in some dogs without the mutation was incorrect. This could happen if the

diagnosis was made only on ultrasound examination by an experienced ultrasonographer and not confirmed by direct examination

of the gallbladder after surgery or necropsy.

 

The results of the above study will be submitted for publication and more details will be available

after it is published. What the above means to breeders is that there will not be a commercially available

 

 

DNA test in the near future to guide breeding decisions. Some genetic problems are “easier” than others to directly attribute to

a particular mutation. The MDR-1 gene is such an example. Dogs with that particular mutation will have adverse reactions if

given drugs affected by the mutation and dogs without the mutation will not. Other diseases, such as hip dysplasia, epilepsy

, and renal disease are multi-factorial and therefore, more difficult to eliminate and to develop genetic tests that would give

accurate predictive results.


Dr. Mealey has done due diligence in further studying the gallbladder mucocele problem before

offering a commercially available DNA test to dog owners. At this time, the predictive ability of a DNA test would not be

accurate enough to be used by breeders to make breeding decisions. Thankfully, Dr. Mealey does not want to offer a DNA

test until and unless it would provide accurate and useful results.


Unfortunately, it appears that much more research is needed to pinpoint the cause(s) of
gallbladder mucoceles. Based on

studies already done, we know that Shelties are at greater risk of developing gallbladder

mucoceles than most other breeds. Recommendations are as noted previously (Mahaffey, 2011). Be aware of the

clinical signs of gallbladder mucoceles and ask your veterinarian to consider that as a rule-out if your dog develops

those signs. Be knowledgeable as possible about the presence of absence of dogs with gallbladder mucoceles in your

dog’s pedigree and use that knowledge in making breeding decisions just as you would with any other abnormality.

 

Aguirre AL, Center SA, Randolph JF, Yeager AE, Keegan AM, Harvey HJ, Erb HN. Gallbladder disease

in Shetland Sheepdogs: 38 cases (1995-2005), J Am Vet Med Assoc. 2007 Jul 1;231(1):79-88.

http://www.ncbi.nlm.nih.gov/pubmed/17605668


Kook PH, Schellenberg S, Rentsch, et al. Effect of twice-daily oral administration of hydrocortisone on

the bile acids composition of gallbladder bile in dogs. Am J Vet Res, 2011; 72: 1607-1612.

http://avmajournals.avma.org/doi/abs/10.2460/ajvr.72.12.1607


Mahaffey MB: Gallbladder Mucoceles in Shetland Sheepdogs.
Bulletin Board, Fall, 2011; 68: 8-11.


Mealey KL, Minch JD, White SN, Snekvik KR, Mattoon JS: An insertion mutation in ABCB4 is

associated with gallbladder mucocele formation in dogs. Comp Hepatol. 2010 Jul 3;9:6.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904718/?tool=pubmed


Mesich ML, Mayhew PD, Paek M, Holt DE, Brown DC: Gall bladder mucoceles and their association with

endocrinopathies in dogs: a retrospective case-control study.

J Small Anim Pract. 2009 Dec;50(12):630-5. http://www.ncbi.nlm.nih.gov/pubmed/19954439

 

NEWS FLASH!!!  Genetic Mutation Found and Research Results Published!

Read: “Gallbladder Mucoceles in Shetland Sheepdogs”,

              Dr. Katrina Mealey, primary investigator of the study, reported to the ASSA Research Advisory

Committee in September, 2009 that her group had identified a genetic mutation in Shelties that was strongly

associated with gallbladder mucoceles.  Dr. Mealey’s group is the same one that developed the DNA test for

the MDR-1 gene.  The research results were published in Comparative Hepatology in July, 2010.

Mealey KL, Minch JD, White SN, Snekvik KR, Mattoon JS: An insertion mutation in ABCB4 is associated

with gallbladder mucocele formation in dogs. Comp Hepatol. 2010 Jul 3;9:6.

A genetic mutation that likely plays a role in the formation of gallbladder mucoceles in dogs was found. 

Median age of affected Shelties was 9 yrs (range 5-12 yrs).   Although not yet proven, the authors believed

that the occurrence of gallbladder mucoceles in dogs is inherited as a dominant trait with incomplete penetrance. 

None of the affected dogs was homozygous for the mutation.  Because people who are homozygous for a similar

mutation have very severe disease, the authors speculated that dogs homozygous for the mutation might die,

either during embryonic development or in early puppy-hood.

            The discovery of the mutation may be used, in the future, to identify dogs predisposed to gallbladder

mucocele formation at an early age.  This would allow these dogs to be closely monitored for mucocele formation.

Surgical intervention could be performed before disease-induced morbidity places the patient at higher risk for

intra- and post-operative complications.  Also, early medical or dietary management might be used to prevent or

delay the onset of gallbladder mucocele formation.

 The article is available to the public through PubMed (using the website below, click on the tab in the right corner,

“Free in PMC”):  http://www.ncbi.nlm.nih.gov/pubmed/20598156

As of August, 2010, Dr. Mealey’s group is studying approximately 100 samples (Shelties and other breeds) from North

Carolina State University (through their pathology laboratory) which should give them more information.  If they do not

find a dog that is homozygous for the mutation in those samples, they will ask for the ASSA’s help in contacting breeders

in an attempt to identify heterozygous breeding pairs so to determine what happens to puppies that are homozygous for the mutation.

At the present time, Dr. Mealey does not need DNA samples from affected dogs unless they very young for having a

mucocele (less than 5 yrs of age).  If anyone has a Sheltie that fits that criterion, Dr. Mealey would like to obtain DNA

via cheek swabs from such a dog.  Dr. Mealey can be contacted via e-mail at: kmealey@vetmed.wsu.edu.

Update as of March, 2011:  As to when a DNA test would be commercially available, Dr. Mealey said, "We have been

working on a rapid and cost-effective (and reliable) method for detecting the MDR3 genotype. It is time-consuming and

costly to sequence every dog as we have done for the research patients. There are certain types of DNA sequences that

are more difficult to work with than others and this particular mutation is in a very tough spot.  Please let owners/breeders

know that we are working on the commercial test but that we want to make sure we can provide an affordable test that is

going to give correct results 100% of the time… We (also) plan to get an estimate of the frequency of the mutation in

Shetland Sheepdogs by testing DNA from "random" Shetland Sheepdogs that we have on hand from various other projects

(at least 200). That should be helpful information for the breed as well."

Earlier Information and Study Background

 

              Dr. Mealey said, “We sincerely appreciate the cooperation we have received from the American Shetland Sheepdog

Association and we will keep you apprised of developments.”  Sheltie owners and the ASSA played an important role in providing

Dr. Mealey with the material needed to identify the mutation.  It was only 18 months from the time the ASSA became involved in

distributing information about the study in March of 2008 until the discovery of the mutation was announced in September, 2009!

  A special thank you to everyone who participated!

Study Background:  Gallbladder disease has been recognized with increasing frequency in dogs since the late 1990’s1-3.   Whether or

not this was the result of a true increase in disease prevalence or simply the result of increased detection is unclear.  Some have suggested

that incorporation of abdominal ultrasound examination in dogs as a routine diagnostic tool has resulted in increased detection of gallbladder

disease2.  Several articles describing gallbladder mucoceles (severe distention of the gallbladder caused by a thick mass of sludge and mucus)

in dogs suggest a breed predilection for the problem in Shetland Sheepdogs as well as Cocker Spaniels and Miniature Schnauzers.  Both

Shetland Sheepdogs and Miniature Schnauzers are breeds predisposed to hyperlipidemia (too much lipid or fat in the blood), 4, 5 a factor

that is known to contribute to gallbladder disease in people6, 7.   A study has confirmed a link between hyperlipidemia and

hypercholesterolemia (high blood cholesterol levels) and gallbladder mucocele formation in Shetland Sheepdogs2.   Collectively, this

suggested the possibility of a genetic defect in a protein responsible for lipid homeostasis (regulation of blood lipid levels).  In March, 2008,

The Veterinary Clinical Pharmacology Laboratory, led by Dr. Katrina Mealey, at Washington State University began a research study

investigating a gene that plays an important role in lipid homeostasis.  It was proposed that a defect in that gene could be the underlying cause

of gallbladder disease in Shetland Sheepdogs.

The ASSA assisted Dr. Mealey in collection of DNA samples from Shelties with and without hyperlipidemia and gallbladder disease by sendin

g notice of the study through Sheltie related internet message groups and posting the information on the ASSA web page.  Nine months after the

study began, enough material was obtained, through the generous participation of Sheltie owners, to limit sample collection to dogs with surgicall

confirmed gallbladder mucoceles and older normal Shelties.  As noted above, it was a mere 18 months from the beginning of ASSA participation

until the genetic mutation was confirmed.  This could not have been accomplished without the enthusiastic participation of Sheltie owners,

and of course, without the dedication and expertise of Dr. Mealey

Dr. Mealey said, “I was surprised (in a positive way) on the response!…Thanks for your assistance--for an uncommon disease we were able

to collect a good number of samples with complete medical information in a short time period (especially considering this was breed specific!)”.

Thanks to everyone who has participated

THANK YOU Dr. Mealey!!!

Katrina Mealey DVM PhD; Diplomate, ACVIM; Diplomate, ACVCP
Associate Professor and Director, Veterinary Clinical Pharmacology Laboratory
College of Veterinary Medicine
Washington State University
Pullman WA, 99164-6610

EMAIL: kmealey@vetmed.wsu.edu

http://www.vetmed.wsu.edu/depts-VCPL/instructions.aspx

Additional information about gallbladder mucoceles including photos of one can be found at the following link on DVM 360: http://veterinarymedicine.dvm360.com/vetmed/article/articleDetail.jsp?id=591378&sk=&date=&pageID=2.

 

References
Pike FS, Bert J, King NW, et al. Gallbladder mucoceles in dogs: 30 cases (2000-2002). J Am Vet Med Assoc 2004;224:1615-1622.

Aguirre AL, Center SA, Randolph JF, et al. Gallbladder disease in Shetland Sheepdogs: 38 cases (1995-2005). J Am

Vet Med Assoc 2007;231:79-88.

Worley DR, Hottinger HA, Lawrency HJ. Surgical management of gallbladder mucoceles in dogs: 22 cases (1999-2003).

J Am Vet Med Assoc 2004;225:1418-1422.

Whitney MS, Boon GD, Rebar AH, et al. Ultracentrifugal and electrophoretic characteristics of the plasma lipoproteins

of miniature schnauzer dogs with idiopathic hyperlipoproteinemia. J Vet Intern Med 1993; 7:253-260.

Sato K, Agoh H, Kaneshige T, et al. Hypercholesterolemia in Shetland sheepdogs. J Vet Med Sci 2000; 62:1297-1301.

Loria P, Leonardo A, Lombardini S, et al. Gallstone disease in non-alcoholic fatty liver: prevalence and associated risk factors.

J Gastroenterol Hepatol 2005; 20:1176-1184.

Andreotti G, Chen J, Gao YT, et al. Serum lipid levels and the risk of biliary tract cancers and biliary stones: A population-based

study in China. Int J Cancer (2007 epub)

* This report will be updated as new information is received and when the DNA test becomes commercially available.


* This report will be updated as new information is received and when the DNA test becomes commercially available.

                                                                        ____________________________________________________

Articles

To Test or Not to Test…


Mary E. Galloway DVM
May, 2008


As ASSA Health chairperson*, people who want to purchase a Sheltie frequently contact me asking what they should know about the

breed’s health problems. A recent call highlighted some concerns expressed by both breeders and owners about the current focus on

canine health and research and how it reflects on the perceived health of purebred dogs and Shelties in particular.

"I am interested in buying a Sheltie but when I hear about all the tests my puppy’s parents should have it worries me. I see your club

is involved in various health research projects and is trying to raise money for further research. Should I look for a healthier breed?

When I spoke with one breeder I was told about all the tests her dogs have had for a lot of diseases. I can get a Sheltie from another

person who told me they don’t have to test for problems since they don’t have any in their lines. What do you think?"


Testing for diseases and monitoring the occurrence of diseases by breed clubs and breeders does not indicate that problems exist in

that breed or line. In fact it is a positive indication that the people who breed these dogs are trying to produce the healthiest puppies

they can. As researchers become more aware of the underlying causes for many diseases in our dogs, breeders try to use all the

resources available to them to produce healthy dogs. This includes feeding a proper diet, providing proper exercise and housing

and may include testing for abnormal conditions or diseases that exist in the breed. Testing for specific conditions will allow only

unaffected animals to be used for breeding. The abnormal conditions currently recognized in Shelties are found in low numbers in

the breed. Testing will allow these uncommon conditions to remain uncommon or even be eliminated from the breed.

A test may be one that screens for the presence of a condition or disease. This would include eye exams (CERF), radiographs of the

hips for hip dysplasia (OFA, PennHip) or a blood test for thyroid disease. When a dog has one of these tests done it will tell the owner

whether the condition is present in that dog at that time. Many of these tests need to be repeated throughout the dog’s lifetime since

the condition can develop as the animal matures and ages. Some tests are done just once at a predetermined age since it is unlikely

the condition will develop after that time. Checking for these conditions will allow breeders to breed only dogs that appear normal.

What must be remembered is that although the dog may not show the condition him/herself these tests do not show if the dog is genetically

free of the problem. The dog may appear normal but carry recessive genes. When this dog is bred to another dog also carrying recessive

genes they may produce animals that will develop the disease. This is how affected animals can come from "normal" parents. The best

safeguard we have to reduce or eliminate these problems in our dogs is to screen all breeding stock and breed only from those who are

free of the condition. In the case of eye checks and thyroid testing, it must be repeated many times in a dog’s lifetime since these

abnormalities may not appear until an animal is older. If all animals in the first 3-4 generations of your puppy’s pedigree have been

tested and found normal it is unlikely that your puppy will develop the condition. It is important to point out that many of the disease

conditions we recognize as having a genetic basis can also be influenced by the environment. The development of hip dysplasia is a good

example. Research has shown diet and exercise as well as growth rates, can influence the development of hip dysplasia. Obesity can cause

or aggravate a number of disease conditions in dogs. It is the owner’s responsibility to know how to correctly feed, house and exercise their

growing puppy to ensure a healthy adult and to maintain good health in your adult dog.

The only absolute way to know your puppy will not develop a certain disease or condition is through genetic testing. A genetic test allows us

to know what is actually coded in the genes of the animal being bred. It is not influenced by environment or outside stresses. It will tell you

what genes the dog actually carries and not just which ones are expressed. Research is unlocking the key to many diseases in dogs and people.

As these tests are developed and become available, breeders will test their breeding stock and know the genetic makeup of each animal.

This will allow breedings to be planned to avoid producing affected offspring and to eventually eliminate the disease from the breed. The

only genetic based test currently available for the Shetland Sheepdog is for von Willebrand’s Disease, a bleeding disorder. (As of 2008

, additional DNA tests have become available.  See the CHIC section above.)

That is why all this research is so important. Projects are underway to study many of the conditions that affect our Shelties today. Funding

is needed for other projects that are of equal importance. As we eliminate one disease from our animals there will be others to demand our

attention. That is why parent clubs like the ASSA monitor the breed through health surveys. Living creatures including dogs and man are

constantly changing. Gene mutations are an ongoing process. Some mutations will produce disease conditions not recognized today. It is said

all people carry 5-6 lethal genes as well as numerous genes that can cause the development of many disease conditions. The same is probably

true for our dogs. The challenge for breeders is to use all the knowledge available today to avoid breeding animals together that carry the same

deleterious genes. There is no dog or line of dogs that is free of all disease causing genes. If testing is not done, breeders may not be aware of

problems that exist, but they are still there. It is true some diseases can’t be tested for at this time. They can be unpredictable and the best we

can do is not use for breeding animals that develop the condition.

So don’t be afraid of a breed or breeder that is active in health research and testing of their breeding animals. This indicates the acceptance

of responsibility and an ongoing effort to produce beautiful healthy Shelties.

* Although Dr. Galloway is not the current Chair of the ASSA Research Advisory Committee (formerly known as the Health Committee),

the information in this well-written article is still appropriate and helpful.

 

Copyright © 1998-2008 American Shetland Sheepdog Association. All Rights Reserved.