OMIA 001481-9615 : Achromatopsia-2 in Canis lupus familiaris

In other species: sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 216900

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: Tanaka et al. (2015): "a missense mutation in exon 7 (c.C1270T/p.R424W) in the German shepherd breed and a 3nt deletion in exon 7 (c.1931_1933delTGG/p.V644del) in Labrador retrievers"

Breeds: German Shepherd Dog, Labrador Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CNGA3 cyclic nucleotide gated channel alpha 3 Canis lupus familiaris 10 NC_006592.3 (44278555..44232716) CNGA3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
German Shepherd Dog Achromatopsia-2 CNGA3 missense c.1270C>T p.R424W 2015 26407004
Labrador Retriever Achromatopsia-2 CNGA3 deletion, small (<=20) c.1931_1933delTGG p.V644del 2015 26407004

Reference


2015 Tanaka, N., Dutrow, E.V., Miyadera, K., Delemotte, L., MacDermaid, C.M., Reinstein, S.L., Crumley, W.R., Dixon, C.J., Casal, M.L., Klein, M.L., Aguirre, G.D., Tanaka, J.C., Guziewicz, K.E. :
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS One 10:e0138943, 2015. Pubmed reference: 26407004. DOI: 10.1371/journal.pone.0138943.

Edit History


  • Created by Frank Nicholas on 31 Dec 2015
  • Changed by Frank Nicholas on 31 Dec 2015