OMIA:002694-8128 : Craniofacial deformities, SOX9-related in Oreochromis niloticus (Nile tilapia)

Categories: Craniofacial phene , Embryo phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 114290 (trait) , 608160 (gene)

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).

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
SOX9a Oreochromis niloticus LG4 NC_031969.2 (20872715..20868578) SOX9a Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002694-8128: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

Edit History

  • Created by Imke Tammen2 on 11 May 2023
  • Changed by Imke Tammen2 on 11 May 2023
  • Changed by Imke Tammen2 on 18 Dec 2023