OMIA:002334-9986 : Long QT syndrome, KCNE1-related in Oryctolagus cuniculus (rabbit)

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613695 (trait) , 612347 (trait)

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002334-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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

  • Created by Imke Tammen2 on 21 Apr 2021
  • Changed by Imke Tammen2 on 21 Apr 2021