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| Nomenclature |
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Symbol:
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Casq2tm1Klmn
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Name:
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calsequestrin 2;
targeted mutation 1, Bjorn C Knollmann
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MGI ID: |
MGI:3690019 |
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Synonyms: |
Casq2-, CSQ2 KO |
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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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Junctional sarcoplasmic reticulum lacks its visible content, and overall sarcoplasmic reticulum volume is increased in ventricular myocytes of Casq2tm1Klmn/Casq2tm1Klmn mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:114621
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Cre mediated recombination resulted in the deletion of the promoter, the entire first exon and 107 bp of intron 1. Loss of transcript and protein was confirmed by quantitative RT-PCR , Northern blot and immunoblot, respectively. (J:114621)
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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:114621
Knollmann BC et al.,
"Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia."
J Clin Invest 2006 Sep;116(9):2510-20
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All: |
6 reference(s)
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Analysis Tools
