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Phenotypes Associated with This Genotype
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1stm1.1Cann mutation (0 available); any Cacna1s mutation (3 available)
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
OMIM ID Ref(s)
Hypokalemic Periodic Paralysis, Type 1; HOKPP1 170400 J:193967

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory