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Targeted Allele Detail
Symbol: Casq2tm1Klmn
Name: calsequestrin 2; targeted mutation 1, Bjorn C Knollmann
MGI ID: MGI:3690019
Synonyms: Casq2-, CSQ2 KO
Gene: Casq2  Location: Chr3:102086420-102146514 bp, + strand  Genetic Position: Chr3, 44.3 cM, cytoband F3
Junctional sarcoplasmic reticulum lacks its visible content, and overall sarcoplasmic reticulum volume is increased in ventricular myocytes of Casq2tm1Klmn/Casq2tm1Klmn 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 detailsCre 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).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
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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:  5 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:  18 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory