OMIA 000683-9925 : Muscular hypertrophy (double muscling) in Capra hircus

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

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

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

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 genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MSTN myostatin Capra hircus 2 NC_030809.1 (130232923..130227819) 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 Wang, X., Petersen, B. :
More abundant and healthier meat: will the MSTN editing epitome empower the commercialization of gene editing in livestock? Sci China Life Sci :, 2021. Pubmed reference: 34431041. DOI: 10.1007/s11427-021-1980-4.
2018 Wang, X., Niu, Y., Zhou, J., Zhu, H., Ma, B., Yu, H., Yan, H., Hua, J., Huang, X., Qu, L., Chen, Y. :
CRISPR/Cas9-mediated MSTN disruption and heritable mutagenesis in goats causes increased body mass. Anim Genet 49:43-51, 2018. Pubmed reference: 29446146. DOI: 10.1111/age.12626.
2014 Singh, S.P., Kumar, R., Kumari, P., Kumar, S., Mitra, A. :
Characterization of 5' upstream region and investigation of TTTTA deletion in 5' UTR of myostatin (MSTN) gene in Indian goat breeds. Anim Biotechnol 25:55-68, 2014. Pubmed reference: 24299184. DOI: 10.1080/10495398.2013.821994.
2013 Zhang, Z.J., Ling, Y.H., Wang, L.J., Hang, Y.F., Guo, X.F., Zhang, Y.H., Ding, J.P., Zhang, X.R. :
Polymorphisms of the myostatin gene (MSTN) and its relationship with growth traits in goat breeds. Genet Mol Res 12:965-71, 2013. Pubmed reference: 23613242. DOI: 10.4238/2013.April.2.12.

Edit History


  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021