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Targeted Allele Detail
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
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
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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
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
MGI 6.11
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