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