Rabbit (Oryctolagus cuniculus) — Lethality, RYR2-related (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Species: Rabbit (Oryctolagus cuniculus)
Disorder: Lethality, RYR2-related
Summary: 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(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: RYR-2 (Entrez Gene ID 388912770) — OMIA Phene_Gene / GeneSynonym

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

2022. Preserved cardiac performance and adrenergic response in a rabbit model with decreased ryanodine receptor 2 expression. J Mol Cell Cardiol — PubMed:PMID35413295 | DOI:10.1016/j.yjmcc.2022.04.004 — OMIA Phene_Article / Article

Rabbit (Oryctolagus cuniculus) — Lethality, RYR2-related (hereditary; OMIA-verified species predisposition)