Casq2^tm1Jse
Targeted Allele Detail

Summary

• Symbol: Casq2^tm1Jse
• Name: calsequestrin 2; targeted mutation 1, Jonathan G Seidman
• MGI ID: MGI:3721900
• Synonyms: Casq2³⁰⁷
• Gene: Casq2 Location: Chr3:101993731-102053830 bp, + strand Genetic Position: Chr3, 44.3 cM, cytoband F3
• Alliance: Casq2^tm1Jse page

Enlarged atria and ventricles in Casq2^tm1Jse/Casq2^tm1Jse hearts

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

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 (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A point mutation was introduced into exon 9 causing an aspartic acid to histidine substitution at amino acid position 307 (D307H). A floxed neo cassette was inserted into the upstream intron. Chimeric mice were bred with Cre transgenic mice to excise the neomycin cassette. Homozygous mice had normal mRNA levels for the gene, but protein levels were reduced to less than 5% of normal. (J:124211)

Disease models

Expression

In Structures Affected by this Mutation:

3 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: 2 reference(s)