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Casq2tm1.1Sgp
Targeted Allele Detail
Nomenclature
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
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 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
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:  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)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory