OMIA:002441-9986 : Short QT syndrome, KCNH2-related in Oryctolagus cuniculus (rabbit) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609620 (trait) , 152427 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific description: This phene includes references to studies involving 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 |
---|---|---|---|---|---|---|
KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | Oryctolagus cuniculus | NW_026259243.1 (1916624..1884069) | KCNH2 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002441-9986: 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.
2024 | Bodi, I., Mettke, L., Michaelides, K., Hornyik, T., Meier, S., Nimani, S., Perez-Feliz, S., El-Battrawy, I., Bugger, H., Zehender, M., Brunner, M., Heijman, J., Odening, K.E. : |
Beneficial normalization of cardiac repolarization by carnitine in transgenic SQT1 rabbit models. Cardiovasc Res :cvae149, 2024. Pubmed reference: 39018021. DOI: 10.1093/cvr/cvae149. | |
2022 | Hornyik, T., Rieder, M., Castiglione, A., Major, P., Baczko, I., Brunner, M., Koren, G., Odening, K.E. : |
Transgenic rabbit models for cardiac disease research. Br J Pharmacol 179:938-957, 2022. Pubmed reference: 33822374. DOI: 10.1111/bph.15484. | |
2019 | Odening, K.E., Bodi, I., Franke, G., Rieke, R., Ryan de Medeiros, A., Perez-Feliz, S., Fürniss, H., Mettke, L., Michaelides, K., Lang, C.N., Steinfurt, J., Pantulu, N.D., Ziupa, D., Menza, M., Zehender, M., Bugger, H., Peyronnet, R., Behrends, J.C., Doleschall, Z., Zur Hausen, A., Bode, C., Jolivet, G., Brunner, M. : |
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. Eur Heart J 40:842-853, 2019. Pubmed reference: 30496390. DOI: 10.1093/eurheartj/ehy761. |
Edit History
- Created by Imke Tammen2 on 27 Sep 2021
- Changed by Imke Tammen2 on 18 Dec 2023