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 |
Variants
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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Miniature Schnauzer | Progressive retinal atrophy, Miniature Schnauzer, type 1 | HIVEP3 | regulatory | CanFam3.1 | 15 | g.1,432,293G>A | "intronic variant in HIVEP3/ENSCAFG00000035604" (Kaukonen et al., 2020) | 2020 | 32150541 |
References
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. |
Edit History
- Created by Frank Nicholas on 17 Mar 2020