OMIA:002611-9823 : Muscular dystrophy, limb-girdle, CAPN3-related in Sus scrofa (pig) |
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 253600 (trait) , 618129 (trait) , 114240 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: unknown
Considered a defect: unknown
Cross-species summary: In humans, variants in CAPN-3 are reported to cause autosomal dominant limb-girdle muscular dystrophy, autosomal recessive 4 and limb-girdle muscular dystrophy, autosomal recessiv1.
Species-specific description: This phene includes references to studies involving gene edited or 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 |
|---|---|---|---|---|---|---|
| CAPN3 | calpain 3 | Sus scrofa | 1 | NC_010443.5 (129013508..128960117) | CAPN3 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002611-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2022 | Navarro-Serna, S., Dehesa-Etxebeste, M., Piñeiro-Silva, C., Romar, R., Lopes, J.S., López de Munaín, A., Gadea, J. : |
| Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination. Theriogenology 186:175-184, 2022. Pubmed reference: 35500431. DOI: 10.1016/j.theriogenology.2022.04.012. |
Edit History
- Created by Imke Tammen2 on 16 Jan 2023
- Changed by Imke Tammen2 on 18 Dec 2023