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

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...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Federation of American Societies for Experimental Biology 2012
Schlagworte:
Research Communications
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3289506/
https://ncbi.nlm.nih.gov/pubmed/22131268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.11-197582
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