OMIA 002577-9986 : Lethality, RYR2-related in Oryctolagus cuniculus

Category: Cardiovascular system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: no

Species-specific description: Zheng et al. (2022) "used a constitutive knock-out of RyR2 in rabbits (RyR2-KO) to assess the extent to which a stable decrease in RyR2 expression modulates Ca2+ handling in the heart. We found that homozygous knock-out of RyR2 in rabbits is embryonic lethal. Remarkably, heterozygotes (KO+/-) show ~50% loss of RyR2 protein without developing an overt phenotype at the intact animal and whole heart levels." This study involves genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RYR2 ryanodine receptor 2 (cardiac) Oryctolagus cuniculus 16 NC_067389.1 (58578272..57808379) RYR2 Homologene, Ensembl, NCBI gene

Reference


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2022 Zheng, J., Dooge, H.C., Pérez-Hernández, M., Zhao, Y.T., Chen, X., Hernandez, J.J., Valdivia, C.R., Palomeque, J., Rothenberg, E., Delmar, M., Valdivia, H.H., Alvarado, F.J. :
Preserved cardiac performance and adrenergic response in a rabbit model with decreased ryanodine receptor 2 expression. J Mol Cell Cardiol 167:118-128, 2022. Pubmed reference: 35413295. DOI: 10.1016/j.yjmcc.2022.04.004.

Edit History


  • Created by Imke Tammen2 on 18 Sep 2022
  • Changed by Imke Tammen2 on 18 Sep 2022
  • Changed by Imke Tammen2 on 27 Oct 2022