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Achromatopsia (Pointer Type)

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Test Overview:

Do not breed affected dogs. This prevents perpetuation of day blindness and other vision disorders. Avoid carrier x carrier matings: Always pair carriers with clear (non-carrier) dogs, ensuring offspring will not be affected. Some may still be carriers, so ongoing genetic monitoring is needed. Genetic testing is recommended for all breeding stock in affected breeds to identify carriers, clears, and affected individuals, guiding responsible breeding decisions. Breed clubs and genetic counselling resources may offer support and guidelines for managing risk and reducing disease incidence in pointer breeds.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Cyclic nucleotide gated channel beta 3 (CNGB3) on chromosome 29

Variant Detected:

Base Substitution c.784G>A p.Asp262Asn Missense mutation in exon 6 (D262N, nucleotide 784)

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

Research Citation(s):

Komáromy, A.M., Rowlan, J.S., Corr, A.T., Reinstein, S.L., Boye, S.L., Cooper, A.E., Gonzalez, A., Levy, B., Wen, R., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. : Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia. Mol Ther , 2013. Pubmed reference: 23568263. DOI: 10.1038/mt.2013.50. Yeh, C.Y., Goldstein, O., Kukekova, A.V., Holley, D., Knollinger, A.M., Huson, H.J., Pearce-Kelling, S.E., Acland, G.M., Komáromy, A.M. : Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genet 14:27, 2013. Pubmed reference: 23601474. DOI: 10.1186/1471-2156-14-27. Sidjanin, JD et al. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.(2002), Hum Mol Genet, 11;16, 1823-1833.

Associated Breed(s):

German Shorthaired Pointer, Mixed Breed,

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