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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

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610445 (trait) , 613731 (trait) , 136880 (trait) , 180380 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: 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 summary: The report in this entry is of a genetically-modified organism (GMO)

Species-specific name: Retinitis pigmentosa

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 Ensembl, NCBI gene

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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.

2025 Jalligampala, A., Young, J.M., Feist, J., Wang, W., Barone, F., Alston, D.C., Fransen, J.W., Jaikumar, G., Kamboj, K., Mooreman, C., Nash, S., Noel, J.M., Pangeni, G., Prestigiacomo, J.C., Sahu, B., Turner, C., Kaplan, H.J., Green, J.A., Wells, K.D., Bartsevich, V.V., Chatterton, J.E., Davis, M., Evans, K.S., Lape, J., Lewis, W.C., van de Beek, R., Viles, K.D., Jantz, D., Gregg, R.G., Smith, J., McCall, M.A. :
RHO1-2 meganuclease gene editing targets human P23H rhodopsin-induced retinitis pigmentosa to rejuvenate rods and maintain cones. bioRxiv , 2025. Pubmed reference: 41040161. DOI: 10.1101/2025.09.25.678625.
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