OMIA:000683-9986 : Muscular hypertrophy (double muscling) in Oryctolagus cuniculus (rabbit) |
In other species: Japanese flounder , Mallard , rock pigeon , chicken , dog , pig , taurine cattle , goat , sheep , water buffalo , Japanese quail , red seabream , 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
Disease-related: 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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
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 39, 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