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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
Mutations:    Insertion, Single point mutation
Mutation detailsA G to A transition at the end of exon 8 results in the introduction of a stop codon in exon 8A (nomenclature used by Splawski et al., 2004). A neo cassette was inserted upstream of the modified exon 8. (J:176442, J:201506)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  7 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory