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| Nomenclature |
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Symbol:
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Casq2tm2Jse
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Name:
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calsequestrin 2;
targeted mutation 2, Jonathan G Seidman
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MGI ID: |
MGI:3721902 |
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Synonyms: |
Casq2deltaE9 |
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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:124211
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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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: A targeting construct removed exon 9 and placed a floxed neo cassette into the upstream intron. Chimeric mice were bred with Cre transgenic mice to excise the neo cassette. No protein was expressed in homozygous mice as measured by western blots of heart tissue. (J:124211)
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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:124211
Song L et al.,
"Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia."
J Clin Invest 2007 Jul;117(7):1814-23
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All: |
1 reference(s)
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Analysis Tools
