Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617332 (gene) , 619646 (trait)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Cross-species summary: Deficiency in TERB1 may result - depending on the species - in spermatogenic and/or oogenetic failure.

Species summary: Kameyama et al. (2024) used CRISP/Cas 9 technology to knock-out TURB1 in medaka: "Mutations in the terb1 gene exhibit defects in [synaptonemal complex] SC formation in medaka. Although SC formation was initiated ... it was not completed in the terb1 mutant meiocytes." This phene includes references to studies involving gene edited or 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: