OMIA:000683-89462 : Muscular hypertrophy (double muscling) in Bubalus bubalis (water buffalo) |
In other species: Japanese flounder , Mallard , rock pigeon , chicken , dog , pig , taurine cattle , goat , sheep , rabbit , pacu , 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:
Single-gene trait/disorder: yes
Disease-related: 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: Dua et al. (2023) produced "myostatin (MSTN) gene-edited embryos of the Murrah buffalo using the CRISPR/Cas9 system and SCNT. ... This work establishes the technical foundation for generation of genome-edited cloned embryos in the buffalo." Punetha et al. (2024) used CRISPR-Cas9 genome editing to sucessfully create MSTN edited embryos. Transfer to recipients resulted in 3 pregnancies, which all terminated prematurely. These studies involves 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 | Bubalus bubalis | 2 | NC_059158.1 (58423897..58428995) | MSTN | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000683-89462: 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.
2024 | Punetha, M., Saini, S., Choudhary, S., Sharma, S., Bala, R., Kumar, P., Sharma, R.K., Yadav, P.S., Datta, T.K., Kumar, D. : |
Establishment of CRISPR-Cas9 ribonucleoprotein mediated MSTN gene edited pregnancy in buffalo: Compare cells transfection and zygotes electroporation. Theriogenology 229:S0093-691X(24)00355-8:158-168, 2024. Pubmed reference: 39178617. DOI: 10.1016/j.theriogenology.2024.08.027. | |
2023 | Dua, S., Bansal, S., Gautam, D., Jose, B., Singh, P., Singh, M.K., De, S., Kumar, D., Yadav, P.S., Kues, W., Selokar, N.L. : |
Production of MSTN gene-edited embryos of buffalo using the CRISPR/Cas9 system and SCNT. Cell Reprogram 25:121-127, 2023. Pubmed reference: 37042654. DOI: 10.1089/cell.2023.0003. |
Edit History
- Created by Imke Tammen2 on 23 Apr 2023
- Changed by Imke Tammen2 on 12 Dec 2023
- Changed by Imke Tammen2 on 26 Aug 2024