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Degenerative Myelopathy (Bernese Mountain Dog Type)

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Test Overview:

Avoid breeding two dogs that are carriers or affected to reduce the incidence of DM in the breed. Genetic screening for both SOD1-A and SOD1-B mutations should be performed on breeding dogs. Breeders should aim to produce clear (non-carrier) offspring while maintaining genetic diversity in the breed. Breed clubs and genetic counsellors can assist in developing responsible breeding plans.

Category:

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

Gene:

SOD1_c52

Variant Detected:

SOD1-A mutation (c.118G>A in exon 2) and SOD1-B mutation (c.52A>T in exon 1)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Recommended Screening:

Genetic testing of the SOD1 gene will reliably determine if a dog is a genetic carrier of the degenerative myelopathy SOD1B (Bernese mountain dog type) Mutation.

Research Citation(s):

Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8):2794-9. [PubMed: 19188595] Coates JR, Wininger FA. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. 2010 Sep; 40(5):929-50. [PubMed: 20732599] Pfahler S, Bachmann N, Fechler C, Lempp C, Baumgärtner W, Distl O. Degenerative myelopathy in a SOD1 compound heterozygous Bernese mountain dog. Anim Genet. 2014 Apr;45(2):309-10. [PubMed: 24450472]

Associated Breed(s):

Bernese Mountain Dog,

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