Brain Hypomyelination (Weimaraner Type)

Category:

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

Gene:

NKX2-8

Variant Detected:

chr8:15149895 (canFam3): C>T; chr8:15149895-15149896 (canFam3): 1 bp insertion (ins T)

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):

Confer AW, Ward BC. Spinal dysraphism: a congenital myelodysplasia in the Weimaraner. J Am Vet Med Assoc. 1972 May 15;160(10):1423-6. [PubMed: 5023160] McGrath JT. Spinal dysraphism in the dog. With comments on syringomyelia. Pathol Vet. 1965;2:Suppl:1-36. [PubMed: 5893238] Safra N, Bassuk AG, Ferguson PJ, Aguilar M, Coulson RL, Thomas N, Hitchens PL, Dickinson PJ, Vernau KM, Wolf ZT, Bannasch DL. Genome-Wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. PLoS Genet. 2013;9(7):e1003646. [PubMed: 23874236]

Associated Breed(s):

Mixed Breed, Weimaraner, Weimaraner Long Hair ,