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)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Species summary: 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 | 7 | NC_091438.1 (22832727..22865322) | KCNH2 | Ensembl, NCBI gene |
Contact us
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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.
| 2025 | Nimani, S., Bains, S., Alerni, N., Ördög, B., Horváth, A., Matas, L., Louradour, J., Giammarino, L., Tester, D.J., Beslac, O., Lopez, R., Meier, S., Egle, M., Christoforou, N., Barbieri, M., Vashanthakumar, V., Perez-Feliz, S., Parodi, C., Garcia Casalta, L.G., Kim, C.S.J., Zhou, W., Ye, D., Jurgensen, J., Barry, M.A., Bego, M., Keyes, L., Owens, J., Pinkstaff, J., Christoph, J., Zehender, M., Brunner, M., Heijman, J., Casoni, D., Praz, F., Haeberlin, A., Brooks, G., Ackerman, M.J., Odening, K.E. : |
| AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome. Eur Heart J :ehaf660, 2025. Pubmed reference: 40884219. DOI: 10.1093/eurheartj/ehaf660. | |
| 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 120:1550-1561, 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