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

In other species: chicken , dog , pig , cattle , goat , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601788 (gene) , 614160 (trait)

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