OMIA:002735-9986 : Cataract, GJA8-related in Oryctolagus cuniculus (rabbit) |
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 116200 (trait) , 600897 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific description: Yuan et al. (2016) generated GJA8-deficient rabbits using CRISPR/Cas9 gene editing to develop a rabbit model for congenital cataracts. Rabbits with impaired GJA8 function presented with microphthalmia, small lens size and cataracts. (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 |
|---|---|---|---|---|---|---|
| GJA8 | gap junction protein, alpha 8, 50kDa | Oryctolagus cuniculus | 13 | NC_067386.1 (43438566..43436407) | GJA8 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002735-9986: 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 | Sun, W., Gu, S., Zhang, F., Xu, M., Chang, P., Zhao, Y. : |
| Congenital cataracts affect the retinal visual cycle and mitochondrial function: A multi-omics study of GJA8 knockout rabbits. J Proteomics :104972, 2023. Pubmed reference: 37467890. DOI: 10.1016/j.jprot.2023.104972. | |
| 2016 | Yuan, L., Sui, T., Chen, M., Deng, J., Huang, Y., Zeng, J., Lv, Q., Song, Y., Li, Z., Lai, L. : |
| CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts. Sci Rep 6:22024, 2016. Pubmed reference: 26912477. DOI: 10.1038/srep22024. |
Edit History
- Created by Imke Tammen2 on 21 Jul 2023
- Changed by Imke Tammen2 on 18 Dec 2023