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

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


Mutation T4825I in the type 1 ryanodine receptor (RYR1T4825I/+) confers human malignant hyperthermia susceptibility (MHS). We report a knock-in mouse line that expresses the isogenetic mutation T4826I. Heterozygous RYR1T4826I/+ (Het) or homozygous RYR1T4826I/T4826I (Hom) mice are fully viable under typical rearing conditions but exhibit genotypeand sex-dependent susceptibility to environmental conditions that trigger MH. Hom mice maintain higher core temperatures than WT in the home cage, have...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: FASEB Journal
DOI: 10.1096/fj.11-197582


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