Casq2^tm1Kpfe
Targeted Allele Detail

Summary

• Symbol: Casq2^tm1Kpfe
• Name: calsequestrin 2; targeted mutation 1, Karl Pfeifer
• MGI ID: MGI:3690019
• Synonyms: Casq2^-, Casq2^tm1Klmn, CSQ2 KO
• Gene: Casq2 Location: Chr3:101993731-102053830 bp, + strand Genetic Position: Chr3, 44.3 cM, cytoband F3
• Alliance: Casq2^tm1Kpfe page

Junctional sarcoplasmic reticulum lacks its visible content, and overall sarcoplasmic reticulum volume is increased in ventricular myocytes of Casq2^tm1Kpfe/Casq2^tm1Kpfe mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:114621
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Cre mediated recombination resulted in the deletion of the promoter, the entire first exon and 107 bp of intron 1. Loss of transcript and protein was confirmed by quantitative RT-PCR , Northern blot and immunoblot, respectively. (J:114621)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Casq2 Mutation: 34 strains or lines available

References

• Original: J:114621 Knollmann BC, et al., Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2006 Sep;116(9):2510-20
• All: 22 reference(s)