OMIA 000683-9986 : Muscular hypertrophy (double muscling) in Oryctolagus cuniculus

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

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

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: The affected rabbits described by Liu et al. (2018) are generated by genome editing and are considered genetically-modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MSTN myostatin Oryctolagus cuniculus 7 NC_013675.1 (130434062..130429151) MSTN Homologene, Ensembl, NCBI gene

Reference


2018 Liu, Z., Chen, M., Chen, S., Deng, J., Song, Y., Lai, L., Li, Z. :
Highly efficient RNA-guided base editing in rabbit. Nat Commun 9:2717, 2018. Pubmed reference: 30006570. DOI: 10.1038/s41467-018-05232-2.

Edit History


  • Created by Imke Tammen2 on 26 Jan 2021
  • Changed by Imke Tammen2 on 26 Jan 2021
  • Changed by Imke Tammen2 on 28 Jan 2021