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OMIA:001346-9541 : Retinal atrophy, progressive, autosomal dominant, RHO-related in Macaca fascicularis (crab-eating macaque)

In other species: dog , pig

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

Considered a defect: yes

Key variant known: no

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 description: Ail et al. (2023) "developed two genetically targeted strategies using optogenetics and CRISPR-Cas9 to ablate rods and mimic rod-cone dystrophy. ... Our second model was generated by CRISPR-Cas9–mediated disruption of the Rhodopsin gene in the rod PRs."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001346-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Ail, D., Nava, D., Hwang, I.P., Brazhnikova, E., Nouvel-Jaillard, C., Dentel, A., Joffrois, C., Rousseau, L., Dégardin, J., Bertin, S., Sahel, J.A., Goureau, O., Picaud, S., Dalkara, D. :
Inducible nonhuman primate models of retinal degeneration for testing end-stage therapies. Sci Adv 9:eadg8163, 2023. Pubmed reference: 37531424. DOI: 10.1126/sciadv.adg8163.

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  • Created by Imke Tammen2 on 13 Aug 2023