Siberian Husky Genetics
The following genetic mutations are known in the Siberian Husky breed. It is recommended to test all breeding dogs for all of these mutations.
We do not recommend exclusion of carrier dogs from the breeding population for all of these mutations except XLPRA1**. However, matings that produce affected dogs should be avoided. As long as one parent is clear, affected puppies cannot be produced. Eliminating all carrier dogs from the breeding population would have devastating consequences for the breed due to the mass reduction in genetic diversity. Carrier dogs can and should be responsibly bred using the results of genetic testing to inform appropriate matings.
**Since XLPRA1 is found on the X chromosome, it only takes one copy for males to be affected. Therefore, we DO recommend excluding any XLPRA1 carriers from the breeding population. Fortunately this mutation is rare in the gene pool.
Disease | Mutation | Mode of Inheritance | Age of Onset of Disease | Symptoms | Additional Information | References |
|---|---|---|---|---|---|---|
Gangliosidosis (GM1) | GLB1: 19bp dup Exon 15 | Autosomal recessive | <1 year old | Neurologic symptoms first appear 1-3 months of age. Nystagmus, difficulties walking, abnormal growth. Usually lethal by age 1. | https://pdfs.semanticscholar.org/35a1/fbbb6cf99e97bcfe07c4cafb1f44f36bb28d.pdf | |
Degenerative Myelopathy (DM) | SOD1: 118G>A | Autosomal recessive | >8 years old | Muscle atrophy and loss of coordination beginning in hind legs. Abnormal gait. Loss of ability to walk within a year of onset of symptoms. | https://ofa.org/degenerative-myelopathy/ | https://onlinelibrary.wiley.com/doi/epdf/10.1111/jvim.12317 |
Progressive Retinal Atrophy (XLPRA1) | RPGR: 5bp del (1028-1032) in exon ORF15 | X-linked recessive; carriers show patchy degeneration | 3-5 years old, although degeneration may begin around 6 months | Clinical symptoms begin with dilated pupils, increased reflectivity, and impaired night vision, which soon progresses to complete blindness. Secondary cataracts may be present. | https://academic.oup.com/jhered/article/98/5/526/2188633; https://academic.oup.com/hmg/article/11/9/993/2901641 | |
Cone degeneration (CD1) | CNGB3: 404,820 bp del | Autosomal recessive | 8-12 weeks | Day-blindness and photophobia; dogs remain ophthalmoscopically normal on physical exam throughout life and therefore this is only detectable through DNA. | https://bmcgenet.biomedcentral.com/articles/10.1186/1471-2156-14-27 | |
Shaking Puppy Syndrome 1 (SPS1) | Unpublished at this time | Autosomal Recessive | ~2 weeks | Tremors begin around 2 weeks of age and often resolve in a few weeks. Sudden death by age 2. | https://vetmed.umn.edu/research/research-labs/canine-genetics-lab/canine-genetics-testing/siberian-husky-health-panel | In Prep |
Siberian Husky Polyneuropathy 1 (SHPN1) | Unpublished at this time | Autosomal Recessive but not fully penetrant* | <2 years of age | Ataxia, muscle weakness and atrophy that may progress into immobility and muscle tremors with age. | https://vetmed.umn.edu/research/research-labs/canine-genetics-lab/canine-genetics-testing/siberian-husky-health-panel | In Prep |
* Affected dogs with two copies of this mutation may never show clinical symptoms