OMIA:000683-93934 : Muscular hypertrophy (double muscling) in Coturnix japonica (Japanese quail)

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

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2020

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: 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:

Symbol Description Species Chr Location OMIA gene details page Other Links
MSTN myostatin Coturnix japonica 7 NC_029522.1 (4326994..4333542) MSTN Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000683-93934: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Kim, D.H., Lee, J., Lee, K. :
Research Note: Sexual dimorphic effect of myostatin mutation on fat accumulation in Japanese quail. Poult Sci 103:S0032-5791(24)00530-3:103951, 2024. Pubmed reference: 38909511. DOI: 10.1016/j.psj.2024.103951.
2023 Kim, D.H., Lee, B., Lee, J., Bohrer, B.M., Choi, Y.M., Lee, K. :
Effects of a myostatin mutation in Japanese quail (Coturnix japonica) on the physicochemical and histochemical characteristics of the pectoralis major muscle. Front Physiol 14:1172884, 2023. Pubmed reference: 37064889. DOI: 10.3389/fphys.2023.1172884.
Lee, J., Tompkins, Y., Kim, D.H., Kim, W.K., Lee, K. :
The effects of myostatin mutation on the tibia bone quality in female Japanese quail before and after sexual maturation. Poult Sci 102:102734, 2023. Pubmed reference: 37156076. DOI: 10.1016/j.psj.2023.102734.
2021 Lee, J., McCurdy, C., Chae, C., Hwang, J., Karolak, M.C., Kim, D.H., Baird, C.L., Bohrer, B.M., Lee, K. :
Myostatin mutation in Japanese quail increased egg size but reduced eggshell thickness and strength. Animals (Basel) 12:47, 2021. Pubmed reference: 35011151. DOI: 10.3390/ani12010047.
2020 Lee, J., Kim, D.H., Lee, K. :
Muscle hyperplasia in Japanese quail by single amino acid deletion in MSTN propeptide. Int J Mol Sci 21:1504, 2020. Pubmed reference: 32098368. DOI: 10.3390/ijms21041504.

Edit History

  • Created by Imke Tammen2 on 21 Jan 2022
  • Changed by Imke Tammen2 on 29 May 2023
  • Changed by Imke Tammen2 on 12 Dec 2023