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Cacna1stm1.1Cann
Targeted Allele Detail
Nomenclature
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.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:193967
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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
References
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)

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
05/08/2018
MGI 6.12
The Jackson Laboratory