OMIA 002029-9913 : Retinitis pigmentosa 1 in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
RP1 | retinitis pigmentosa 1 (autosomal dominant) | Bos taurus | 14 | NC_037341.1 (22335447..22344612) | RP1 | Homologene, Ensembl, NCBI gene |
Variants
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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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Angus Beef Booster Composite Belgian Blue Charolais Gelbvieh Holstein Maine Anjou Normande Red Angus | Retinitis pigmentosa 1 | RP1 | insertion, small (<=20) | UMD3.1 | 14 | g.23995411_23995412insA | p. R791KfsX13 | 2016 | 27510606 |
Reference
2016 | Michot, P., Chahory, S., Marete, A., Grohs, C., Dagios, D., Donzel, E., Aboukadiri, A., Deloche, M.C., Allais-Bonnet, A., Chambrial, M., Barbey, S., Genestout, L., Boussaha, M., Danchin-Burge, C., Fritz, S., Boichard, D., Capitan, A. : | |
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. Genet Sel Evol 48:56, 2016. Pubmed reference: 27510606. DOI: 10.1186/s12711-016-0232-y. |
Edit History
- Created by Frank Nicholas on 11 Aug 2016
- Changed by Frank Nicholas on 11 Aug 2016