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OMIA:001346-9823 : Retinal atrophy, progressive, autosomal dominant, RHO-related in Sus scrofa (pig)

In other species: crab-eating macaque , dog

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 610445 (trait) , 613731 (trait) , 136880 (trait) , 180380 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2011) (PMID:22065099)

Species-specific name: Retinitis pigmentosa

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.

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001346-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Burnight, E.R., Wiley, L.A., Mullin, N.K., Adur, M.K., Lang, M.J., Cranston, C.M., Jiao, C., Russell, S.R., Sohn, E.H., Han, I.C., Ross, J.W., Stone, E.M., Mullins, R.F., Tucker, B.A. :
CRISPRi-mediated treatment of dominant rhodopsin-associated retinitis pigmentosa. CRISPR J 6:502-513, 2023. Pubmed reference: 38108516. DOI: 10.1089/crispr.2023.0039.
2017 Scott, P.A., de Castro, J.P., DeMarco, P.J., Ross, J.W., Njoka, J., Walters, E., Prather, R.S., McCall, M.A., Kaplan, H.J. :
Progression of Pro23His retinopathy in a miniature swine model of retinitis pigmentosa. Transl Vis Sci Technol 6:4, 2017. Pubmed reference: 28316877. DOI: 10.1167/tvst.6.2.4.
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.

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  • Created by Imke Tammen2 on 09 Jan 2024
  • Changed by Imke Tammen2 on 09 Jan 2024