OMIA 001984-9615 : Golden Retriever progressive retinal atrophy 2 in Canis lupus familiaris
Mäkeläinen et al. (2020): "The progression of PRA for two of the dogs was followed for 2 years ... . In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia."
[IT thanks DVM student Rachel Simmonds for contributions to this entry in April 2022.]Breed: Golden Retriever. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TTC8||tetratricopeptide repeat domain 8||Canis lupus familiaris||8||NC_051812.1 (60332658..60386187)||TTC8||Homologene, Ensembl, NCBI gene|
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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|
|949||Golden Retriever||Golden Retriever PRA 2||TTC8||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||8||g.60090186del||c.669delA||p.(K223Rfs*15)||2014||26401321|
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.
|2020||Mäkeläinen, S., Hellsand, M., van der Heiden, A.D., Andersson, E., Thorsson, E., S Holst, B., Häggström, J., Ljungvall, I., Mellersh, C., Hallböök, F., Andersson, G., Ekesten, B., Bergström, T.F. :|
|Deletion in the Bardet-Biedl syndrome gene TTC8 results in a syndromic retinal degeneration in dogs. Genes (Basel) 11:, 2020. Pubmed reference: 32962042. DOI: 10.3390/genes11091090.|
|2016||Downs, L.M., Aguirre, G.D. :|
|FAM161A and TTC8 are differentially expressed in non-allelelic early onset retinal degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.1007/978-3-319-17121-0_27.|
|2014||Downs, L.M., Wallin-Håkansson, B., Bergström, T., Mellersh, C.S. :|
|A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321. DOI: 10.1186/2052-6687-1-4.|
|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.|
- Created by Frank Nicholas on 04 Feb 2016
- Changed by Frank Nicholas on 04 Feb 2016
- Changed by Imke Tammen2 on 26 Sep 2021
- Changed by Imke Tammen2 on 21 May 2022
- Changed by Imke Tammen2 on 22 May 2022