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Encephalopathy (Alaskan Husky Type)

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Test Overview:

Test all Alaskan Huskies intended for breeding for the SLC19A3 mutation. Avoid mating two carriers to prevent affected puppies. Breed carriers only to clear dogs with offspring tested before breeding. Maintain genetic diversity while reducing disease incidence.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Thiamine transporter 2 (LOC486151) also known as SLC19A3 on Chromosome 25

Variant Detected:

4 base pair insertion and nucleotide substitution: c.624insTTGC and c.625C>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Vernau KM, et al. Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. (2013) PLoS ONE 8(3): e57195.

Associated Breed(s):

Alaskan Husky,

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