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Phenotypes Associated with This Genotype
Genotype
MGI:5474008
Allelic
Composition
Cacna1stm1.1Cann/Cacna1s+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1stm1.1Cann mutation (0 available); any Cacna1s mutation (44 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

muscle
• 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

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypokalemic periodic paralysis DOID:14452 OMIM:170400
OMIM:613345
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
04/18/2017
MGI 6.08
The Jackson Laboratory