OMIA:001572-9615 : Retinal atrophy, progressive, SLC4A3-related in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 106195 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Cross-species summary: This disorder has been previously renamed in OMIA on the basis of the review by Miyadera et al. (2012) and has been more recently renamed from the dog specific name 'Golden Retriever progressive retinal atrophy 1' to a cross-species name [25/11/2022].

Species-specific name: Golden Retriever PRA1, Golden Retriever progressive retinal atrophy 1

Species-specific symbol: GR_PRA1

Mapping: By conducting a GWAS on 27 affected and 19 control Swedish Golden Retrievers, each genotyped with the CanineSNP20 BeadChip (yielding 14,389 informative SNPs for analysis), Downs et al. (2011) mapped this disorder to a region on chromosome CFA37. Subsequent homozygosity mapping narrowed the region to 644kb, which contains 27 genes.

Molecular basis: By sequencing the most likely functional candidate gene from the candidate region (see Mapping section), Downs et al. (2011) identified a causal mutation as "a frame shift mutation [in SLC4A3] caused by the insertion of a single cytosine in exon 16 (c.2601_2602insC; CFA37:29,147,633). It is predicted to cause a premature stop codon in exon 18 (p.E868RfsX104) possibly resulting in degradation of the mRNA by nonsense-mediated decay (NMD) or a truncated protein product". Although this mutation is causal in the families in which it exists, it does not account for all cases of the disorder in this breed.

Breed: Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

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.

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 Year Published PubMed ID(s) Acknowledgements
575 Golden Retriever (Dog) Golden Retriever PRA 1 SLC4A3 insertion, small (<=20) Naturally occurring variant CanFam3.1 37 g.26145752_26145753insC c.2601_2602insC p.(E859Rfs*104) Genomic coordinates in CanFam3.1 and EVA ID provided by Robert Kuhn rs1152388421 2011 21738669 NM_001289433.1; NP_001276362.1; one of 3 transcripts; second EVA ID for this variant rs852038699 is inconsistent with HGVS 3' rule

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001572-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. :
Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77.
2022 Trecenti-Santana, A.S., Guiraldelli, G.G., Albertino, L.G., Ferreira, J.F., Andrade, F.M., Borges, A.S., Oliveira-Filho, J.P. :
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil. Front Vet Sci 9:973854, 2022. Pubmed reference: 36325094. DOI: 10.3389/fvets.2022.973854.
2021 Genetics Committee of the American College of Veterinary Opthalmologists :
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition , 2021.
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.

Edit History

  • 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
  • Changed by Imke Tammen2 on 22 May 2022
  • Changed by Imke Tammen2 on 25 Nov 2022