Casq2^tm1.1Sgp
Targeted Allele Detail

Summary

• Symbol: Casq2^tm1.1Sgp
• Name: calsequestrin 2; targeted mutation 1.1, Silvia G Priori
• MGI ID: MGI:4354204
• Synonyms: CASQ2^R33Q
• Gene: Casq2 Location: Chr3:101993731-102053830 bp, + strand Genetic Position: Chr3, 44.3 cM, cytoband F3
• Alliance: Casq2^tm1.1Sgp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:151367
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A mutation was introduced into exon 1 altering codon 33 so that it encodes glutamine rather than arginine (R33Q). A loxP site and an frt flanked PGK-neomycin were inserted following exon 1. Male mice were bred to female mice expressing flp recombinase in order to remove the selection cassette. (J:151367)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:151367 Rizzi N, et al., Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model. Circ Res. 2008 Aug 1;103(3):298-306
• All: 8 reference(s)