OMIA:002365-9823 : Cardiomyopathy, dilated, RBM20-related in Sus scrofa (pig) |
In other species: dog
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613172 (trait) , 613171 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: RBM20 variants are known to cause dilated cardiomyopathy in humans and animals. Zhang et al. (2024) created an RBM20 exon 9 deletion pig model using CRISPR technology on fibroblasts followed by somatic cell nuclear transfer to investigate RBM20 function in skeletal muscle. This study involves 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 |
|---|---|---|---|---|---|---|
| RBM20 | RNA binding motif protein 20 | Sus scrofa | 14 | NC_010456.5 (121058896..121269824) | RBM20 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002365-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Zhang, L., Fu, C., Zhou, M., Miao, W., Sun, W., Xu, J., Cao, S., Zhu, S. : |
| Deletion of RBM20 exon 9 impairs skeletal muscle growth and satellite cell function in pigs. Biochem Biophys Res Commun 742:S0006-291X(24)01612-7:151076, 2024. Pubmed reference: 39632296. DOI: 10.1016/j.bbrc.2024.151076. |
Edit History
- Created by Imke Tammen2 on 17 Dec 2024
- Changed by Imke Tammen2 on 17 Dec 2024