Ryr1 (ryanodine receptor 1, skeletal muscle)

基因基本信息

Ryr1 基因表型（MGI）

Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. Compound heterozygosity for the p.Q1971Tfs*49 and p.A4330D mutations affects muscle calcium ion kinetics and leads to reduced body weight and muscle strength.

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