OMIA:002211-9823 : Cardiomyopathy, hypertrophic, SGCD-related in Sus scrofa (pig) |
In other species: golden hamster
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606685 (trait) , 601411 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: unknown
Disease-related: yes
Species-specific description: Matsunar et al. (2020) "knocked out the δ-sarcoglycan (δ-SG) gene (SGCD) in domestic pig by using a combination of efficient de novo gene editing and somatic cell nuclear transfer. Loss of δ-SG expression in the SGCD knockout pigs caused a concomitant reduction in the levels of α-, β-, and γ-SG in the cardiac and skeletal sarcolemma, resulting in systolic dysfunction, myocardial tissue degeneration, and sudden death. These animals exhibited symptoms resembling human genetic cardiomyopathy and are thus promising for use in preclinical studies of next-generation therapies." These animals are 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 |
|---|---|---|---|---|---|---|
| SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | Sus scrofa | 16 | NC_010458.4 (67481709..66447982) | SGCD | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002211-9823: 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.
| 2021 | Tanihara, F., Hirata, M., Otoi, T. : |
| Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025. | |
| 2020 | Matsunari, H., Honda, M., Watanabe, M., Fukushima, S., Suzuki, K., Miyagawa, S., Nakano, K., Umeyama, K., Uchikura, A., Okamoto, K., Nagaya, M., Toyo-Oka, T., Sawa, Y., Nagashima, H. : |
| Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy. Lab Invest 100:887-99, 2020. Pubmed reference: 32060408. DOI: 10.1038/s41374-020-0406-7. | |
| Matsunari, H., Honda, M., Watanabe, M., Fukushima, S., Suzuki, K., Miyagawa, S., Nakano, K., Umeyama, K., Uchikura, A., Okamoto, K., Nagaya, M., Toyo-Oka, T., Sawa, Y., Nagashima, H. : | |
| Correction: Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy. Lab Invest 100:900, 2020. Pubmed reference: 32203148. DOI: 10.1038/s41374-020-0414-7. |
Edit History
- Created by Frank Nicholas on 18 Feb 2020
- Changed by Imke Tammen2 on 18 Sep 2021
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 18 Dec 2023