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Cacna1ctm5.1Hfm
Targeted Allele Detail
Summary
Symbol: Cacna1ctm5.1Hfm
Name: calcium channel, voltage-dependent, L type, alpha 1C subunit; targeted mutation 5.1, Franz Hofmann
MGI ID: MGI:5293799
Synonyms: CaV1.2D1904stop
Gene: Cacna1c  Location: Chr6:118564201-119173851 bp, - strand  Genetic Position: Chr6, 55.86 cM
Alliance: Cacna1ctm5.1Hfm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:176723
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 44 was replaced with one in which nucleotide substitution results in the amino acid substitution of a stop codon for aspartic acid at position 1904 (D1904Stop) and a floxed neo cassette. Cre-mediated recombination removed the neo cassette. (J:176723)
Generation of the Cacna1ctm5.1Hfm allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 8 assay results
In Structures Affected by this Mutation: 1 anatomical structure(s)
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 Cacna1c Mutation:  141 strains or lines available
References
Original:  J:176723 Domes K, et al., Truncation of murine cav1.2 at asp-1904 results in heart failure after birth. J Biol Chem. 2011 Sep 30;286(39):33863-71
All:  2 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
04/16/2024
MGI 6.23
The Jackson Laboratory