OMIA 001413-9823 : Retinitis pigmentosa in Sus scrofa |
In other species:
cattle
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
yes
Key variant known:
no
Species-specific description:
The report in this entry is of a genetically-modified organism (GMO)
Molecular basis:
This entry records the artificial creation of a mutant retinitis pigmentosa line of pigs by Ross et al. (2012) by somatic cell nuclear transfer (SCNT) of a mutated form (Pro23His) of the human RHO gene into a line of miniature pigs.
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
RHO | rhodopsin | Sus scrofa | 13 | NC_010455.5 (68908578..68913651) | RHO | Homologene, Ensembl, NCBI gene |
Reference
2012 | Ross, J.W., Fernandez de Castro, J.P., Zhao, J., Samuel, M., Walters, E., Rios, C., Bray-Ward, P., Jones, B.W., Marc, R.E., Wang, W., Zhou, L., Noel, J.M., McCall, M.A., DeMarco, P.J., Prather, R.S., Kaplan, H.J. : | |
Generation of an inbred miniature pig model of retinitis pigmentosa. Invest Ophthalmol Vis Sci 53:501-7, 2012. Pubmed reference: 22247487. DOI: 10.1167/iovs.11-8784. |
Edit History
- Created by Frank Nicholas on 31 Mar 2016
- Changed by Frank Nicholas on 19 Apr 2018