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Article

Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Mar 2012

Yuen Benjamin, Boncompagni Simona, Feng Wei, Yang Tianzhong, Lopez Jose R, Matthaei Klaus I, Goth Samuel R, Protasi Feliciano, Franzini-Armstrong Clara, Allen Paul D, Pessah Isaac N

Abstract excerpt

Mutation T4825I in the type 1 ryanodine receptor (RYR1(T4825I/+)) confers human malignant hyperthermia susceptibility (MHS). We report a knock-in mouse line that expresses the isogenetic mutation T4826I. Heterozygous RYR1(T4826I/+) (Het) or homozygous RYR1(T4826I/T4826I) (Hom) mice are fully viable under typical rearing conditions but exhibit genotype- and sex-dependent susceptibility to environmental conditions...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22131268
DOI: 10.1096/fj.11-197582
PMCID: PMC3289506

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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