OMIA:002735-9986 : Cataract, GJA8-related in Oryctolagus cuniculus (rabbit)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 116200 (trait) , 600897 (gene)

Links to relevant human diseases in MONDO:

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