OMIA:000683-93934 : Muscular hypertrophy (double muscling) in Coturnix japonica (Japanese quail) |
In other species: rock pigeon , chicken , dog , pig , taurine cattle , goat , sheep , rabbit , water buffalo , yellow catfish
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601788 (gene) , 614160 (trait)
Links to MONDO diseases:
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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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.
| 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