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Genetic Health Testing for German Shepherd Dogs

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German Shepherd puppy

Embark for Breeders offers 10 breed-specific genetic health tests for the German Shepherd Dog among the 210+ genetic health conditions Embark tests for. Breeders can easily share breed-specific DNA test results on parents or puppies with the one-page DNA Health Summary report offered with Embark test results.  

Genetic health testing is an integral part of a sound dog breeding program. When using genetic health testing it is important for breeders to educate themselves about concepts such as modes of inheritance, penetrance, prevalence, and phenotype for a specific variant (mutation) in your breed in order to apply test results. Breeders also need to know which variants are causing health concerns in their breed, and which health conditions currently have no genetic test available. This handy search function by breed or by health condition can show breeders which DNA tests Embark provides. 

Embark DNA tests for the German Shepherd Dog include the following conditions. The health condition percentages based on clear, carrier, and at-risk status presented on common, rare, and very rare genetic risk factors are based on a subset of dogs within the Embark database and do not necessarily represent all dogs of this breed. While we are not able to provide specific population numbers at this time, we believe the data provided here to be sufficient to inform on current trends within the North American population of German Shepherd Dogs. 

Common genetic health risk factors <95% clear rate

These are the most common genetic conditions based on Embark data, ranked from most to least prevalent, in the German Shepherd Dog with less than 95% of dogs testing clear. 

Degenerative Myelopathy, DM (SOD1A)

The dog equivalent of Amyotrophic Lateral Sclerosis, or Lou Gehrig’s disease, DM is a progressive degenerative disorder of the spinal cord. Because the nerves that control the hind limbs are the first to degenerate, the most common clinical signs are back muscle wasting and gait abnormalities. The gene is SOD1A* and the mode of inheritance is recessive. 

* SOD1A VS SOD1B

Please note: While we test for the SOD1A variant, we do not test for the SOD1B (Bernese Mountain Dog type) variant at this time. Degenerative Myelopathy genotype results apply only to SOD1A.

  • Based on Embark-tested German Shepherd Dogs that have opted into research, here’s a snapshot of the breed today: 65.87% of dogs tested clear, 29.85% tested carriers, and 4.28% tested at-risk for Degenerative Myelopathy DM. 

 Citations:  Awano et al 2009 Shelton et al 2012 Capuccio et al 2014

Rare genetic health risk factors 95-99% clear rate

These are rare genetic conditions, from lowest to highest, in the German Shepherd Dog with from 95% to 99% of dogs testing clear. 

Platelet Factor X Receptor Deficiency, Scott Syndrome (TMEM16F) 

Canine Scott Syndrome is a defect in platelet function leading to impaired secondary hemostasis. Secondary hemostasis occurs after a platelet “plug” has formed. Its role is to make the plug stable by adding fibrin to the clot. Dogs with CSS have platelets that cannot signal in response to stimuli to induce platelet activation or death. The gene is TMEM16F and the mode of inheritance is recessive. 

  • Based on Embark-tested German Shepherd Dogs that have opted into research, here’s a snapshot of the breed today: 96.37% of dogs tested clear, 3.54% tested carriers, and .09% tested at-risk for Platelet Factor X Receptor Deficiency, Scott Syndrome (TMEM16F). 

Citations: Brooks et al 2015

MDR1 Drug Sensitivity (ABCB1)

Sensitivity to certain classes of drugs, notably the parasiticide ivermectin, as well as certain gastroprotectant and anti-cancer medications, occurs in dogs with a mutation in the ABCB1 gene. The mode of inheritance is codominant. 

  • Based on Embark-tested German Shepherd Dogs that have opted into research, here’s a snapshot of the breed today: 98.49% of dogs tested clear, 1.47% tested at risk, heterozygote codominant, and .03% tested at-risk, homozygote codominant for MDR1 Drug Sensitivity (ABCB1). 

Citations: Mealey et al 2001 Han et al 2010 Neff et al 2004 Barbet et al 2009 Gramer et al 2011

Very rare genetic health risk factors >99% clear rate

The following genetic conditions have a greater than 99% clear rate and are considered very rare genetic diseases in the German Shepherd Dog. 

Achromatopsia (CNGA3 Exon 7, German Shepherd Variant)

Achromatopsia is a progressive, non painful disorder of the retina that affects color vision and light perception. Cone cells not only register color, they allow the dog to adjust their eyes to bright light. Dogs with this disease constantly feel like us when we step out of a movie theater. Night vision remains completely unaffected. The gene is CNGA3 Exon 7 and the mode of inheritance is recessive. 

Citations: Tanaka et al 2015

Canine Leukocyte Adhesion Deficiency Type III, CLAD III (FERMT3, German Shepherd Variant) 

CLAD III is a rare disorder of white blood cells and platelets that causes increased susceptibility to infections and bleeding tendencies.This mutation causes the normal activation of white blood cells and platelets in response to an injury or infection to fail. The gene is FERMT3 and the mode of inheritance is recessive. 

Citations: Boudreaux et al 2010

Factor VIII Deficiency, Hemophilia A (F8 Exon 1, German Shepherd Variant 2) 

Factor VIII deficiency (Hemophilia A) is a type of coagulopathy, a disorder of blood clotting. Dogs with this disorder can bleed spontaneously into their chest, abdomen, or joints. They will also develop significant bruising and profuse bleeding following a trauma or surgery. The gene is F8 and the mode of inheritance is x-linked recessive.  

Citations: Mischke et al 2011

Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU (SLC2A9)

This condition causes kidney and bladder stones composed of urate. In most dogs, uric acid is converted to allantoin, an inert substance that is then excreted in the urine. Dogs with HUU have defects in the pathway that converts uric acid to allantoin. As such, uric acid builds up, crystallizes and forms urate stones in the kidney and bladder. Uric acid is an intermediate of purine metabolism. While hyperuricemia in other species (including humans) can lead to painful conditions such as gout, dogs do not develop systemic signs of hyperuricemia. The gene is SLC2A9 (Exon 5) and the mode of inheritance is recessive. 

Citations: Bannasch et al 2008 , Karmi et al 2010 , Donner et al 2016

Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3, German Shepherd Variant)

A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. Mucopolysaccharidoses (MPS) are defined by abnormal buildup of glycosaminoglycans, large sugar-protein molecules that are important for skeletal and joint function. The gene is GUSB and the mode of inheritance is recessive. 

Citations: Ray et al 1998

Renal Cystadenocarcinoma and Nodular Dermatofibrosis, RCND (FLCN Exon 7) 

Hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis (RCND) is a multiorgan syndrome that creates dense collagen nodules in the skin and causes cancer in the kidneys and uterus. The gene is FLCN and the mode of inheritance is dominant. 

Citations: Lingaas et al 2003

X-linked Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, XHED (EDA Intron 8)

XHED has been mapped to a mutation in the EDA gene, leading to a defective ectodysplasin protein, which is known to play a role in hair follicle and tooth bud development. This developmental condition can cause a scanty hair coat, malformed teeth, and few or absent sweat glands. The gene is EDA and the mode of inheritance is x-linked recessive.  

Citations: Casal et al 2005

With 10 known conditions in German Shepherd Dogs, this is evidence that genetic disorders are of concern within the breed and other conditions are likely to be identified in the future. By DNA testing your German Shepherd Dog with Embark you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

German Shepherd Dog Club of America 

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the German Shepherd Dog 

Mandatory 

Hip Dysplasia 

Elbow Dysplasia 

Temperament Test 

Optional but recommended 

Cardiac Evaluation 

Autoimmune Thyroiditis 

Eye Examination 

Degenerative Myelopathy DM

Genetic health testing is not a diagnosis of a disease. Please consult your veterinarian for any health issues with your dog. To start your DNA testing journey, breeders can select from a variety of Embark for Breeders Dog DNA Kits. 

 

Lisa Peterson Contributor

Award-winning writer, journalist, and podcast host, Lisa Peterson, is a canine subject matter expert and Senior Content Strategist, Breeder/Veterinarian at Embark Veterinary. She served as the American Kennel Club director of communications and club communications for 10 years before becoming a Westminster Kennel Club public relations consultant from 2016 to 2021. Lisa began owning, breeding, and handling Norwegian Elkhounds more than 35 years ago, and today is an AKC judge and AKC Breeder of Merit.

Read more about Lisa Peterson

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