In other species: rock pigeon , chicken , dog , pig , taurine cattle , goat , sheep , rabbit , water buffalo , Japanese quail , yellow catfish

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601788 (gene) , 614160 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0013598: myostatin-related muscle hypertrophy

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2019

Cross-species summary: Abnormal increase in muscular tissue caused entirely by enlargement of existing cells (in contrast to muscular hyperplasia, in which the abnormal increase in muscular tissue is due to the formation and growth of new, normal muscle cells)

Species-specific description: Kim et al. (2019) "introduced a CRISPR/Cas9 system to disrupt Paralichthys olivaceus MSTN (PoMSTN) using microinjection. ... PoMSTN-disrupted P. olivaceus exhibited greater body thickness and increased condition factor, indicating the enhancement of muscle mass with muscle hyperplasia."
Kim et al. (2024) "assessed the genome-wide transcriptional expression pattern associated with the CRISPR/Cas9-mutated MSTN gene in the olive flounder (Paralichthys olivaceus) in association with changes in cell proliferation and transportation processes. There were no differences in the hepatosomatic index, and the growth of male and female fish increased in the F1 progeny of the MSTN mutants."
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: