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Targeted Allele Detail
Symbol: Cacna1stm1.1Cann
Name: calcium channel, voltage-dependent, L type, alpha 1S subunit; targeted mutation 1.1, Stephen Cannon
MGI ID: MGI:5473902
Synonyms: CACNA1SR528H, R528Hm
Gene: Cacna1s  Location: Chr1:136052750-136119535 bp, + strand  Genetic Position: Chr1, 59.55 cM, cytoband F
Vacuolar myopathy in Cacna1stm1.1Cann/Cacna1stm1.1Cann muscle and rare dilated cisternae in Cacna1stm1.1Cann/Cacna1s+ sarcoplasmic reticulum

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:193967
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsExon 11 was replaced with a modified exon 11 in which a G to A substitution results in the amino acid substitution of histidine for arginine at position 528 (R528H). Cre-mediated recombination removed the neo cassette. (J:193967)
Generation of the Cacna1stm1.1Cann allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cacna1s Mutation:  56 strains or lines available
Original:  J:193967 Wu F, et al., A calcium channel mutant mouse model of hypokalemic periodic paralysis. J Clin Invest. 2012 Dec 3;122(12):4580-91
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory