About   Help   FAQ
Targeted Allele Detail
Symbol: Casq2tm1.1Sgp
Name: calsequestrin 2; targeted mutation 1.1, Silvia G Priori
MGI ID: MGI:4354204
Synonyms: CASQ2R33Q
Gene: Casq2  Location: Chr3:102086420-102146514 bp, + strand  Genetic Position: Chr3, 44.3 cM, cytoband F3
Germline Transmission:  Earliest citation of germline transmission: J:151367
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Hypomorph)
Mutation:    Single point mutation
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  5 strains or lines available
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:  6 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.14
The Jackson Laboratory