OMIA 002334-9986 : Long QT syndrome, KCNE1-related in Oryctolagus cuniculus |
Category: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613695 (trait) , 612347 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Inheritance: Transgenic model of human disease (GMO)
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | Oryctolagus cuniculus | NW_026259175.1 (4907345..4926002) | KCNE1 | 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. | |
| 2016 | Major, P., Baczkó, I., Hiripi, L., Odening, K.E., Juhász, V., Kohajda, Z., Horváth, A., Seprényi, G., Kovács, M., Virág, L., Jost, N., Prorok, J., Ördög, B., Doleschall, Z., Nattel, S., Varró, A., Bősze, Z. : |
| A novel transgenic rabbit model with reduced repolarization reserve: long QT syndrome caused by a dominant-negative mutation of the KCNE1 gene. Br J Pharmacol 173:2046-61, 2016. Pubmed reference: 27076034. DOI: 10.1111/bph.13500. |
Edit History
- Changed by Imke Tammen2 on 21 Apr 2021
- Created by Imke Tammen2 on 21 Apr 2021