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Cacna1ctm4Hfm
Targeted Allele Detail
Summary
Symbol: Cacna1ctm4Hfm
Name: calcium channel, voltage-dependent, L type, alpha 1C subunit; targeted mutation 4, Franz Hofmann
MGI ID: MGI:5291981
Synonyms: Cav1.2I1624E
Gene: Cacna1c  Location: Chr6:118564201-119173851 bp, - strand  Genetic Position: Chr6, 55.86 cM
Alliance: Cacna1ctm4Hfm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:175463
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Specified)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA floxed neo cassette was inserted upstream of a modified exon 40 in which nucleotide substitutions (ATC to GAG) results in the amino acid substitution of glutamic acid for isoleucine at position 1624 (I1624E). (J:175463)
Generation of the Cacna1ctm4Hfm allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  144 strains or lines available
References
Original:  J:175463 Poomvanicha M, et al., Facilitation and Ca2+-dependent inactivation are modified by mutation of the Ca(v)1.2 channel IQ motif. J Biol Chem. 2011 Jul 29;286(30):26702-7
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
10/29/2024
MGI 6.24
The Jackson Laboratory