Phenotypes Associated with This Genotype

Genotype
MGI:5474008

• Allelic Composition: Cacna1s^tm1.1Cann/Cacna1s⁺
• Genetic Background: involves: 129

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Vacuolar myopathy in Cacna1s^tm1.1Cann/Cacna1s^tm1.1Cann muscle and rare dilated cisternae in Cacna1s^tm1.1Cann/Cacna1s⁺ sarcoplasmic reticulum

muscle

dilated sarcoplasmic reticulum ( J:193967 )

• mild cisternae dilation

abnormal muscle physiology ( J:193967 )

• 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

abnormal muscle contractility ( J:193967 )

• 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

decreased grip strength ( J:193967 )

♂ • 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