OMIA:001481-9615 : Achromatopsia-2, CNGA3-related in Canis lupus familiaris |
In other species: sheep
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 216900 (trait) , 600053 (gene)
Links to MONDO diseases:
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_051814.1 (45150463..45105862) | CNGA3 | Homologene, Ensembl , NCBI gene |
Variants
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 548 | Labrador Retriever | Achromatopsia-2 | CNGA3 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 10 | g.44234198_44234200del | c.1931_1933del | p.(V644del) | NM_001301112.1; published as c.1931_1933delTGG | rs852784090 | rs852784090 | 2015 | 26407004 | Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn | |
| 97 | German Shepherd Dog | Achromatopsia-2 | CNGA3 | missense | Naturally occurring variant | CanFam3.1 | 10 | g.44234861C>T | c.1270C>T | p.(R424W) | NM_001301112.1; NP_001288041.1 | 2015 | 26407004 | Genomic position in CanFam3.1 provided by Mateo Etcheveste. |
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
- Changed by Frank Nicholas on 31 Dec 2015
- Created by Frank Nicholas on 31 Dec 2015