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Genetic Health Testing for Pomeranians

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Pomeranians

Embark for Breeders offers six breed-specific genetic health tests for the Pomeranian 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, breeders need to educate themselves about concepts such as modes of inheritance, penetrance, prevalence, and phenotype for a specific variant in their 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 Pomeranian 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 Pomeranians. 

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 Pomeranian, 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 Pomeranians that have opted into research, here’s a snapshot of the breed today: 76.9% of dogs tested clear; 21.1% tested as carriers, heterozygote recessive; and 1.7% at risk, homozygote recessive, for Degenerative Myelopathy, DM (SOD1A).

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

Methemoglobinemia (CYB5R3)

Oxygen is carried in the blood by hemoglobin. Methemoglobin forms when hemoglobin iron is oxidized, and it cannot carry oxygen in the blood. Methemoglobinemia is a disease where too much methemoglobin is present, and the body no longer has the oxygen supply it needs to function. This disease was first described in a mixed-breed dog. The gene is CYB5R3. The mode of inheritance is recessive. 

  • Based on Embark-tested Pomeranians that have opted into research, here’s a snapshot of the breed today: 90.1% of dogs tested clear; 9.4% tested as carriers, heterozygote recessive; and 0.3% at risk, homozygote recessive, for Methemoglobinemia (CYB5R3).

Citations: Jaffey et al 2017

Rare genetic health risk factors 95-99% clear rate

This is a rare genetic condition in the Pomeranian, with 95% to 99% of dogs testing clear. 

Progressive Retinal Atrophy, rcd3 (PDE6A)

PRA-rcd3 is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness. The gene is PDE6A. The mode of inheritance is recessive.

  • Based on Embark-tested Pomeranians that have opted into research, here’s a snapshot of the breed today: 98.9% of dogs tested clear, and 1.0% tested as carriers for Progressive Retinal Atrophy, rcd3 (PDE6A).

Citations: Petersen-Jones et al 1999

 

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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 Pomeranian

Hereditary Vitamin D-Resistant Rickets (VDR)

Calcium absorption occurs at the level of the small intestine and is mediated by calcitriol or Vitamin D. Unlike nutritional rickets, HVDRR is caused by mutations in the Vitamin D Receptor (VDR), leading to poor calcium absorption. The gene is VDR (Exon 4). The mode of inheritance is recessive. 

Citations: LeVine et al 2009

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 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 kidneys 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. This mutation was first described in the Dalmatian. This mutation is inherited in an autosomal recessive manner. 

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

Oculocutaneous Albinism, OCA (SLC45A2, Small Breed Variant)

Caused by a failure of melanin synthesis, oculocutaneous albinism (OCA) is characterized by lack of pigment of the eyes, skin, and hair. The gene is SLC45A2. The mode of inheritance is recessive. 

Citations: Wijesena et al 2015

With six known conditions in the Pomeranian, 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 Pomeranians with Embark, you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

The American Pomeranian Club

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the Pomeranian

Mandatory

Cardiac Evaluation

Patellar Luxation 

Health Elective – either ACVO Eye Exam or Autoimmune Thyroiditis 

Optional but recommended 

Hip Dysplasia 

Legg-Calve-Perthes

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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