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

In other species: dog

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 192500 (trait) , 607542 (gene)

Links to relevant human diseases in MONDO:

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002332-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Giannetti, F., Barbieri, M., Shiti, A., Casini, S., Sager, P.T., Das, S., Pradhananga, S., Srinivasan, D., Nimani, S., Alerni, N., Louradour, J., Mura, M., Gnecchi, M., Brink, P., Zehender, M., Koren, G., Zaza, A., Crotti, L., Wilde, A.A.M., Schwartz, P.J., Remme, C.A., Gepstein, L., Sala, L., Odening, K.E. :
Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2. Europace , 2023. Pubmed reference: 37099628. DOI: 10.1093/europace/euad094.
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