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).

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].


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