Population
Adult heterozygous Ryr1(I4895T/+) knock-in mice (IT/+) and age-matched wild-type (WT) mice
Comparison
Ryr1(I4895T/+) mutation (genetic model) vs Age-matched wild-type (WT) mice
Design
Preclinical
Authors
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RYR1 mutation impairs Ca2+ release and strength in mice; leaves open relevance to human myopathies pending clinical validation.
The Ryr1(I4895T/+) mutation causes muscle weakness in mice through a dominant-negative suppression of RYR1 channel Ca2+ ion permeation, reducing the magnitude and rate of Ca2+ release during excitation-contraction coupling.
Loy et al. (2010) studied this question.
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