Abstract
Hypokalemic periodic paralysis (HypoPP) is an inherited muscle channelopathy which has been linked to mutations in the L-type (Cav1.1) Ca2+ channel alpha 1 subunit. Remarkably, 6 of 7 HypoPP mutations in CaV1.1 are at arginines in S4 voltage sensors, as are all 8 HypoPP mutations in NaV1.4. Here, we generated a genetically engineered mouse with one amino acid substitution causing HypoPP located in the S4 voltage sensor of the second domain of the Cav1.1 alpha subunit (S4-II R528H). Homozygous mutant mice (S4-II R528H) were viable, and while spontaneous attacks of weakness were not observed, tetanic force was reduced during low K challenge for in vitro contractions.
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