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Cacna1ctm2Itl
Targeted Allele Detail
Nomenclature
Symbol: Cacna1ctm2Itl
Name: calcium channel, voltage-dependent, L type, alpha 1C subunit; targeted mutation 2, inGenious Targeting Laboratory
MGI ID: MGI:5296904
Synonyms: Ts2-neo
Gene: Cacna1c  Location: Chr6:118587240-119196418 bp, - strand  Genetic Position: Chr6, 55.86 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:176442
Parent Cell Line:  iTL BA1 (ES Cell)
Strain of Origin:  (C57BL/6NTac x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence, Null/knockout)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA G to A transition at the end of exon 8 results in a G406R mutation which appears to be a gain of function mutation that is embryonic lethal in both hetero- and homozygotes. The insertion of an inverted Neo cassette downstream of exon 8, in alternative exon 8A (which is mutually exclusive with exon 8), creates a stop codon in exon 8A (nomenclature used by Splawski et al., 2004) and ameliorates the lethality of the point mutation in heterozygotes. (J:176442, J:201506)
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: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna1c Mutation:  80 strains or lines available
References
Original:  J:176442 Bader PL, et al., Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15432-7
All:  5 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
06/19/2018
MGI 6.12
The Jackson Laboratory