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OMIA:002333-9986 : Long QT syndrome, KCNH2-related in Oryctolagus cuniculus (rabbit)

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613688 (trait) , 609620 (trait)

Single-gene trait/disorder: yes

Disease-related: 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
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 Oryctolagus cuniculus 7 NC_091438.1 (22832727..22865322) KCNH2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002333-9986: 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 25:euad094, 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.

Edit History


  • Created by Imke Tammen2 on 21 Apr 2021
  • Changed by Imke Tammen2 on 21 Apr 2021