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Casq2tm1Jse
Targeted Allele Detail
Nomenclature
Symbol: Casq2tm1Jse
Name: calsequestrin 2; targeted mutation 1, Jonathan G Seidman
MGI ID: MGI:3721900
Synonyms: Casq2307
Gene: Casq2  Location: Chr3:102086415-102146514 bp, + strand  Genetic Position: Chr3, 44.3 cM, cytoband F3
Enlarged atria and ventricles in Casq2tm1Jse/Casq2tm1Jse hearts

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:124211
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA point mutation was introduced into exon 9 causing an aspartic acid to histidine substitution at amino acid position 307 (D307H). A floxed neo cassette was inserted into the upstream intron. Chimeric mice were bred with Cre transgenic mice to excise the neomycin cassette. Homozygous mice had normal mRNA levels for the gene, but protein levels were reduced to less than 5% of normal. (J:124211)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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:  20 strains or lines available
References
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
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/18/2018
MGI 6.12
The Jackson Laboratory