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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:

Mendelian 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