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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 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 - no genomic information (-..-) 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.
2021 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 :, 2021. 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