Other names: Achromatopsia-3,
Affected gene: CNGB3
Transmission: Autosomal recessive
Mutation: CanFam3.1 chr29:32695888-33101135: Whole-gene deletion, at least 140 kb and extending into CPNE3 (404,820 bp deletion)OMIA link: 001365-9615
Breeds suitable for testing: Alaskan Husky, Alaskan Malamute, Alaskan Sled Dog, Aussiedoodle, Australian Shepherd, Miniature American Shepherd, Miniature Australian Shepherd, Pomsky, Siberian Husky, Toy Australian Shepherd
Reference:
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 reference: 12140185.
Cone Degeneration (CNGB3 Gene) -Husky, Malamute And Australian Shepherd
5 tests et + 55$ch.
Délais de traitement
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