Other Names: Achromatopsia-3
Affected Gene: CNGB3
Transmission: Autosomal recessive
Mutation: CanFam3.1 chr29:32695888-33101135: deletion of the entire gene, at least 140 kb, extending to CPNE3 (deletion of 404,820 bp)
OMIA Link: 001365-9615Breeds Recommended for Testing: Alaskan Husky, Alaskan Malamute, Alaskan Sled Dog, Australian Shepherd, Miniature American Shepherd, Miniature Australian Shepherd, Siberian Husky
References:
Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A.
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
Human Molecular Genetics 11:1823-33, 2002. PubMed: 12140185
PRA - Cone Degeneration (CNGB3 Gene) - Husky, Malamute, and Australian Shepherd
5 tests et + 55$ch.
After your samples are received at the laboratory, please allow 10 to 15 business days for your results to be sent.