OMIA:002441-9986 : Short QT syndrome, KCNH2-related in Oryctolagus cuniculus |
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609620 (trait) , 152427 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).
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 |
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.
| 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. |
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- Created by Imke Tammen2 on 27 Sep 2021