You are here: OMIA / Search / OMIA:002179 / fat sand rat

OMIA:002179-48139 : Stargardt disease 1 in Psammomys obesus (fat sand rat)

In other species: dog , pig

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 248200 (trait) , 601691 (gene)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Species-specific description: Sassone et al. (2024): "performed sub-retinal injections of CRISPR/Cas9-abca4 Adeno-Associated Virus constructs into young Sand Rats (Psammomys obesus) ... . Compared to control injections of AAV-abca4-GFP, treated eyes exhibited extensive retinal degeneration by two months. Sanger sequencing of the CRISPR targeted sequence show a clear edition of Abca4 gene." This study involves gene edited or genetically modified organisms (GMO).

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
Abca4 ATP binding cassette subfamily A member 4 Psammomys obesus NW_026596095.1 (9934455..10056183) Abca4 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002179-48139: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 Sassone, F., Estay-Ahumada, C., Roux, M.J., Ciocca, D., Rossolillo, P., Birling, M.C., Sparrow, J.R., Montenegro, D., Hicks, D. :
Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease. Sci Rep 14:30880, 2024. Pubmed reference: 39730605. DOI: 10.1038/s41598-024-81869-y.

Edit History


  • Created by Imke Tammen2 on 30 Dec 2024