OMIA:002195-9823 : Cardiomyopathy, dilated, PLN-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: 609909 (trait) , 613874 (trait) , 172405 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Species summary: Runa-Vochozkova et al. (2026) "describe the generation of a humanized pig model for phospholamban-mediated cardiomyopathy and compare different methods for activating a pathogenic [PLN] R14del mutation by Cre-mediated recombination."
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
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:002195-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Runa-Vochozkova, P., Vaskovicova, M., Cambra, J.M., Bähr, A., Männer, E.M., Kurome, M., Zakhartchenko, V., Güngör, T., Kessler, B., Heymer, H.C., Corsten, M.L., Bozoglu, T., Rajendran, V., Yator, S.K., Dorn, T., Hernandez, J.K., Luksch, I.M., Harakalova, M., van Tintelen, P., Juhas, S., Juhasova, J., Cabrera-Gómez, C.G., Zöls, S., Senf, S., Stillitano, F., Sluijter, J.P.G., Ritzmann, M., Ellederova, Z., Jan, M., Doevendans, P.A., Drutovic, D., Glijnis, P.C., Wolf, E., Kupatt, C., Klymiuk, N. : |
| Activating a patient-relevant pathogenic variant of a genetically defined heart disease in a humanized pig model. Lab Anim (NY) 55:386-401, 2026. Pubmed reference: 42728377. DOI: 10.1038/s41684-026-01787-6. |
Edit History
- Created by Imke Tammen on 06 Oct 2026