Casq2^tm2Jse
Targeted Allele Detail

Summary

• Symbol: Casq2^tm2Jse
• Name: calsequestrin 2; targeted mutation 2, Jonathan G Seidman
• MGI ID: MGI:3721902
• Synonyms: Casq2^deltaE9
• Gene: Casq2 Location: Chr3:101993731-102053830 bp, + strand Genetic Position: Chr3, 44.3 cM, cytoband F3
• Alliance: Casq2^tm2Jse page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:124211
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A targeting construct removed exon 9 and placed a floxed neo cassette into the upstream intron. Chimeric mice were bred with Cre transgenic mice to excise the neo cassette. No protein was expressed in homozygous mice as measured by western blots of heart tissue. (J:124211)

Disease models

Expression

In Structures Affected by this Mutation:

4 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:124211 Song L, et al., Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2007 Jul;117(7):1814-23
• All: 1 reference(s)