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Cone Degeneration (German Shepherd Dog Type)

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Test Overview:

Test breeding dogs for the CNGB3 mutation associated with CD. Avoid breeding two carriers, as this risks producing 25% affected puppies. Breed carriers only with clear (non-carrier) dogs to avoid producing affected puppies. Incorporate genetic testing results into responsible breeding programs to maintain genetic diversity while reducing disease incidence.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CNGA3

Variant Detected:

chr10:44234861 (canFam3): C/T

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CNGA3 gene will reliably determine if a dog is a genetic carrier of cone degeneration (German shepherd type).

Research Citation(s):

Tanaka N, Dutrow EV, Miyadera K, Delemotte L, MacDermaid CM, Reinstein SL, Crumley WR, Dixon CJ, Casal ML, Klein ML, Aguirre GD, Tanaka JC, Guziewicz KE. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS One. 2015 Sep 25;10(9):e0138943. [PubMed: 26407004]

Associated Breed(s):

German Shepherd Dog, Mixed Breed,

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