OMIA 000683-93934 : Muscular hypertrophy (double muscling) in Coturnix japonica |
In other species: cattle , pig , dog , chicken , rabbit , goat , sheep
Category: 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: no
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).
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 |
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.
| 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:, 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:, 2020. Pubmed reference: 32098368. DOI: 10.3390/ijms21041504. |
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- Created by Imke Tammen2 on 21 Jan 2022