Categories: Craniofacial phene , Embryo phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 114290 (trait) , 608160 (gene)

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).

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: