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Genetic Health Testing for German Shorthaired Pointers

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German Shorthaired Pointer lying down against a while background

Embark for Breeders offers five breed-specific genetic health tests for the German Shorthaired Pointer among the 250+ genetic health conditions for which Embark tests. Breeders can easily share breed-specific DNA test results on parents or puppies with the one-page DNA Health Summary report with Embark test results.  

Genetic health testing is an integral part of a responsible 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 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 health condition can show breeders which DNA tests Embark provides. 

Embark DNA tests for the German Shorthaired Pointer 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 Shorthaired Pointers. 

Rare genetic health risk factors 95-99% clear rate

The rare genetic conditions in the German Shorthaired Pointer, from most to least prevalent, with 95% to 99% 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 Shorthaired Pointers that have opted into research, here’s a snapshot of the breed today: 98.6% of dogs tested clear, 1.3% tested carriers, and <0.1% tested at-risk for Degenerative Myelopathy, DM (SOD1A)

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

 

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 Shorthaired Pointer

Day Blindness, Cone Degeneration, Achromatopsia (CNGB3 Exon 6, German Shorthaired Pointer Variant)

Achromatopsia is a progressive, non-painful retina disorder 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 mode of inheritance is recessive. 

Citations: Sidjanin et al 2002

Hereditary Sensory Autonomic Neuropathy, Acral Mutilation Syndrome, AMS (GDNF-AS, Spaniel and Pointer Variant)

HSAN is a rare condition affecting the dog’s ability to feel pain. The mode of inheritance is recessive. 

Citations: Plassais et al 2016

Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8, Australian 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. This form of lysosomal storage disease causes juvenile to adult-onset neurologic signs. The mode of inheritance is recessive. 

Citations: Guo et al 2014

Von Willebrand Disease Type II, Type II vWD (VWF, Pointer Variant)

Von Willebrand Disease (vWD) is a type of coagulopathy, a disorder of blood clotting. There are multiple types of vWD, some common and some rare, with marked differences in severity. Please inform your veterinarian of your dog’s vWD status.

Citations: Vos-Loohuis et al 2017

With five known conditions in the German Shorthaired Pointer, 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 Shorthaired Pointer with Embark, you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

German Shorthaired Pointer Club of America

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the German Shorthaired Pointer

Mandatory

Hip Dysplasia 

Cardiac Evaluation

Eye Examination 

Cone Degeneration

Elbow Dysplasia

Optional but recommended 

Autoimmune Thyroiditis

von Willebrand’s Disease

Remember, 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, explore Embark for Breeders Dog DNA Tests. 

 

Lisa Peterson Contributor

Award-winning writer, journalist, and podcast host Lisa Peterson is a canine subject matter expert and Content Strategy Lead 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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