Mouse Genome Informatics
involves: 129
phenotype observed in females
phenotype observed in males
N normal phenotype

Vacuolar myopathy in Cacna1stm1.1Cann/Cacna1stm1.1Cann muscle and rare dilated cisternae in Cacna1stm1.1Cann/Cacna1s+ sarcoplasmic reticulum

• mild cisternae dilation
• flexor digitorum brevis fibers exhibit modestly reduced peak calcium transients with a slower activation compared with wild-type mice
• mice exhibit in vivo hypokalemic periodic paralysis from glucose plus insulin challenge with reduced relative CAMP and force compared with wild-type mice
• flexor digitorum brevis fibers exhibit loss of function changes for ionic current conduction compared with wild-type fibers
• the amplitude of calcium ion transient under voltage clamp conditions exhibits slower rise time compared to in wild-type fibers
• following low potassium challenge, extensor digitorum longus muscles in male mice exhibit modest reduced peak force and a rapid decline in force compared with wild-type mice
• however, mice do not have myotonia

• mild hindlimb weakness from 3 to 8 months in male, but not female, mice

Mouse Models of Human Disease
Hypokalemic Periodic Paralysis, Type 1; HOKPP1 170400 J:193967