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

In other species: Japanese flounder , rock pigeon , chicken , dog , pig , taurine cattle , goat , sheep , water buffalo , Japanese quail , yellow catfish

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601788 (gene) , 614160 (trait)

Links to relevant human diseases in MONDO:

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).

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 Oryctolagus cuniculus 7 NC_067380.1 (43163543..43168454) MSTN Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000683-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2022 Zheng, Y., Zhang, Y., Wu, L., Riaz, H., Li, Z., Shi, D., Rehman, S.U., Liu, Q., Cui, K. :
Generation of heritable prominent double muscle buttock rabbits via novel site editing of myostatin gene using CRISPR/Cas9 system. Front Vet Sci 9:842074, 2022. Pubmed reference: 35669173. DOI: 10.3389/fvets.2022.842074.
2019 Zhang, T., Lu, Y., Song, S., Lu, R., Zhou, M., He, Z., Yuan, T., Yan, K., Cheng, Y. :
"Double-muscling" and pelvic tilt phenomena in rabbits with the cystine-knot motif deficiency of myostatin (MSTN) on exon 3. Biosci Rep , 2019. Pubmed reference: 31072915. DOI: 10.1042/BSR20190207.
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
  • Changed by Imke Tammen2 on 13 Jan 2023
  • Changed by Imke Tammen2 on 12 Dec 2023