OMIA 002252-9615 : Progressive retinal atrophy, Miniature Schnauzer, type 1 in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HIVEP3||human immunodeficiency virus type I enhancer binding protein 3||Canis lupus familiaris||15||NC_051819.1 (1256192..1715140)||HIVEP3||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|
|1170||Miniature Schnauzer||Progressive retinal atrophy, Miniature Schnauzer, type 1||HIVEP3||regulatory||Naturally occurring variant||CanFam3.1||15||g.1432293G>A||"intronic variant in HIVEP3/ENSCAFG00000035604" (Kaukonen et al., 2020). The genetic evidence is unable to distinguish between the HIVEP3 and PPT1 variants as potential causes of PRA. ... functional considerations favor causality of the coding PPT1 structural variant over the intronic HIVEP3 SNV" (Aguirre et al. 2020).||2020||32150541|
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||Kaukonen, M., Quintero, I.B., Mukarram, A.K., Hytönen, M.K., Holopainen, S., Wickström, K., Kyöstilä, K., Arumilli, M., Jalomäki, S., Daub, C.O., Kere, J., Lohi, H. :|
|A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet 16:e1008659, 2020. Pubmed reference: 32150541. DOI: 10.1371/journal.pgen.1008659.|
|2013||Jeong, M.B., Park, S.A., Kim, S.E., Park, Y.W., Narfström, K., Seo, K. :|
|Clinical and electroretinographic findings of progressive retinal atrophy in miniature schnauzer dogs of South Korea. J Vet Med Sci 75:1303-8, 2013. Pubmed reference: 23719750. DOI: 10.1292/jvms.12-0358.|
- Created by Frank Nicholas on 17 Mar 2020