OMIA 002332-9986 : Long QT syndrome, KCNQ1-related in Oryctolagus cuniculus

Category: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 192500 (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
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 Oryctolagus cuniculus NW_026258138.1 (1965..179812) KCNQ1 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.
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.

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  • Created by Imke Tammen2 on 21 Apr 2021