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

@article{Yuen2012MiceET,
  title={Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.},
  author={Benjamin T. K. Yuen and Simona Boncompagni and Wei Feng and Tianzhong Yang and Jos{\'e} Rafael L{\'o}pez and Klaus Ingo Matthaei and Samuel R. Goth and Feliciano Protasi and Clara Franzini-armstrong and Paul D. Allen and Isaac N Pessah},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2012},
  volume={26 3},
  pages={1311-22}
}
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 that trigger MH. Hom mice maintain higher core temperatures than WT in the home… CONTINUE READING

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