OMIA:002694-8128 : Craniofacial deformities, SOX9-related in Oreochromis niloticus (Nile tilapia)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Li et al. (2023) "used CRISPR/Cas9 gene editing to mutate Sox9a in Nile tilapia. ... Our findings revealed that Nile tilapia fish bearing the Sox9a mutation died at 20 dah ... . ... the Sox9a mutant group exhibited craniofacial deformities and missing mandibles ... . Calcein staining showed that homozygous Sox9a mutation resulted in deformed craniofacial bones, curved spine, and smaller, curved tail bud bone ... ." 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|
|SOX9a||Oreochromis niloticus||LG4||NC_031969.2 (20872715..20868578)||SOX9a||Homologene, Ensembl , NCBI gene|
Cite this entry
|2023||Li, X.Y., Tang, Y.H., Deng, W.Y., Zheng, Y., Wang, L.S., He, X., Xie, Q.P., Li, Y.Q., Deng, L., Wang, D.S., Wei, L. :|
|Involvement of Sox9a in chondrogenesis and gonadal development in teleost Nile tilapia (Oreochromis niloticus). Zool Res 44:1-3, 2023. Pubmed reference: 37161654. DOI: 10.24272/j.issn.2095-8137.2023.024.|
- Created by Imke Tammen2 on 11 May 2023
- Changed by Imke Tammen2 on 11 May 2023