Yang, Tianzhong; Riehl, Joyce; Esteve, Eric; Matthaei, Klaus; Goth, Samuel; Allen , Paul D; Pessah, Issac N; Lopez, Jose R
BACKGROUND: Malignant hyperthermia is a pharmacogenetic disorder affecting humans, dogs, pigs, and horses. In the majority of human cases and all cases in animals, malignant hyperthermia has been associated with missense mutations in the skeletal ryanodine receptor (RyR1). METHODS: The authors used a "knock-in" targeting vector to create mice carrying the RyR1 R163C malignant hyperthermia mutation. RESULTS: Validation of this new mouse model of human malignant hyperthermia susceptibility...[Show more]
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