OMIA:002332-9986 : Long QT syndrome, KCNQ1-related in Oryctolagus cuniculus (rabbit) |
In other species: dog
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 192500 (trait) , 607542 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Inheritance: Transgenic model of human disease (GMO)
Genetic engineering:
Unknown
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 |
|---|---|---|---|---|---|---|
| KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | Oryctolagus cuniculus | NW_026258138.1 (1965..179812) | KCNQ1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002332-9986: 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.
| 2023 | Giannetti, F., Barbieri, M., Shiti, A., Casini, S., Sager, P.T., Das, S., Pradhananga, S., Srinivasan, D., Nimani, S., Alerni, N., Louradour, J., Mura, M., Gnecchi, M., Brink, P., Zehender, M., Koren, G., Zaza, A., Crotti, L., Wilde, A.A.M., Schwartz, P.J., Remme, C.A., Gepstein, L., Sala, L., Odening, K.E. : |
| Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2. Europace , 2023. Pubmed reference: 37099628. DOI: 10.1093/europace/euad094. | |
| 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. | |
| 2008 | Brunner, M., Peng, X., Liu, G.X., Ren, X.Q., Ziv, O., Choi, B.R., Mathur, R., Hajjiri, M., Odening, K.E., Steinberg, E., Folco, E.J., Pringa, E., Centracchio, J., Macharzina, R.R., Donahay, T., Schofield, L., Rana, N., Kirk, M., Mitchell, G.F., Poppas, A., Zehender, M., Koren, G. : |
| Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. J Clin Invest 118:2246-59, 2008. Pubmed reference: 18464931. DOI: 10.1172/JCI33578. |
Edit History
- Created by Imke Tammen2 on 21 Apr 2021