OMIA 002441-9986 : Short QT syndrome, KCNH2-related in Oryctolagus cuniculus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609620 (trait) , 152427 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 Oryctolagus cuniculus 13 NC_013681.1 (12403836..12370887) KCNH2 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.
2019 Odening, K.E., Bodi, I., Franke, G., Rieke, R., Ryan de Medeiros, A., Perez-Feliz, S., F├╝rniss, H., Mettke, L., Michaelides, K., Lang, C.N., Steinfurt, J., Pantulu, N.D., Ziupa, D., Menza, M., Zehender, M., Bugger, H., Peyronnet, R., Behrends, J.C., Doleschall, Z., Zur Hausen, A., Bode, C., Jolivet, G., Brunner, M. :
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. Eur Heart J 40:842-853, 2019. Pubmed reference: 30496390. DOI: 10.1093/eurheartj/ehy761.

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  • Created by Imke Tammen2 on 27 Sep 2021