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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