OMIA:002702-8090 : Spondyloocular syndrome in Oryzias latipes (Japanese medaka)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Pan et al. (2023): "we used CRISPR/Cas9 system to generate Olpax6.1 mutant [in the PAX6 gene] in Japanese medaka. Phenotype analysis showed that ocular mutation caused by the Olpax6.1 mutation occurred in the homozygous mutant. The phenotype of heterozygotes is not significantly different from that of wild-type. In addition, knockout Olpax6.1 resulted in severe curvature of the spine in the homozygous F2 generation. ... Based on the phenotype and molecular mechanism of ocular mutation and spinal curvature induced by Olpax6.1 knockout, we believe that the Olpax6.1-/- mutant could be a potential model for the study of spondylo-ocular syndrome." This study involves genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|pax6||paired box 6||Oryzias latipes||3||NC_019861.2 (23341387..23359547)||pax6||Homologene, Ensembl , NCBI gene|
Cite this entry
|2023||Pan, Q., Lu, K., Luo, J., Jiang, Y., Xia, B., Chen, L., Wang, M., Dai, R., Chen, T. :|
|Japanese medaka Olpax6.1 mutant as a potential model for spondylo-ocular syndrome. Funct Integr Genomics 23:168, 2023. Pubmed reference: 37204625. DOI: 10.1007/s10142-023-01090-4.|
- Created by Imke Tammen2 on 21 May 2023