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| Nomenclature |
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Symbol:
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Casq2tm1.1Sgp
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Name:
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calsequestrin 2;
targeted mutation 1.1, Silvia G Priori
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MGI ID: |
MGI:4354204 |
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Synonyms: |
CASQ2R33Q |
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Gene:
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Casq2
Location:
Chr3:102086415-102146514 bp, + strand
Genetic Position: Chr3,
44.3 cM, cytoband F3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:151367
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Single point mutation |
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Mutation details: A mutation was introduced into exon 1 altering codon 33 so that it encodes glutamine rather than arginine. 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Casq2 Mutation:
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4 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
