Mouse Genome Informatics
ht
    Cacna1stm1.1Cann/Cacna1s+
involves: 129
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
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 (J:193967)

Mouse Models of Human Disease
OMIM IDRef(s)
Hypokalemic Periodic Paralysis, Type 1; HOKPP1 170400 J:193967