OMIA 001572-9615 : Golden Retriever progressive retinal atrophy 1 in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC4A3||solute carrier family 4 (anion exchanger), member 3||Canis lupus familiaris||37||NC_051841.1 (26151769..26167414)||SLC4A3||Homologene, Ensembl, NCBI gene|
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.
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.
|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|
|Golden Retriever||Golden Retriever PRA 1||SLC4A3||insertion, small (<=20)||Naturally occurring variant||37||c.2601_2602insC||200922: g. info moved here (g.29147633) until it can be standardised||2011||21738669|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2012||Miyadera, K., Acland, G.M., Aguirre, G.D. :|
|Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.|
|2011||Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. :|
|A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.|
- Created by Frank Nicholas on 12 Jul 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 02 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 May 2013
- Changed by Imke Tammen2 on 28 Sep 2021