Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Casq2tm1Kpfe Name: calsequestrin 2; targeted mutation 1, Karl Pfeifer MGI ID: MGI:3690019 Synonyms: Casq2-, Casq2tm1Klmn, CSQ2 KO Gene: Casq2  Location: Chr3:101993731-102053830 bp, + strand  Genetic Position: Chr3, 44.3 cM, cytoband F3 Alliance: Casq2tm1Kpfe page

Junctional sarcoplasmic reticulum lacks its visible content, and overall sarcoplasmic reticulum volume is increased in ventricular myocytes of Casq2tm1Kpfe/Casq2tm1Kpfe mice Show the 1 phenotype image(s) involving this allele.

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

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)