Cacna1s^tm1.1Cann
Targeted Allele Detail

Summary

• Symbol: Cacna1s^tm1.1Cann
• Name: calcium channel, voltage-dependent, L type, alpha 1S subunit; targeted mutation 1.1, Stephen Cannon
• MGI ID: MGI:5473902
• Synonyms: CACNA1S^R528H, R528H^m
• Gene: Cacna1s Location: Chr1:135980549-136047268 bp, + strand Genetic Position: Chr1, 59.55 cM, cytoband F
• Alliance: Cacna1s^tm1.1Cann page

Vacuolar myopathy in Cacna1s^tm1.1Cann/Cacna1s^tm1.1Cann muscle and rare dilated cisternae in Cacna1s^tm1.1Cann/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 details: Exon 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 Cacna1s^tm1.1Cann allele

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 118 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: 2 reference(s)