Cacna1c^tm2Itl
Targeted Allele Detail

Summary

• Symbol: Cacna1c^tm2Itl
• Name: calcium channel, voltage-dependent, L type, alpha 1C subunit; targeted mutation 2, inGenious Targeting Laboratory
• MGI ID: MGI:5296904
• Synonyms: CaV1.2^TS, Ts2-neo
• Gene: Cacna1c Location: Chr6:118564201-119173851 bp, - strand Genetic Position: Chr6, 55.86 cM
• Alliance: Cacna1c^tm2Itl page

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 details: A 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 FRT:loxP flanked-inverted Neo cassette 301 bp downstream of the G->A point mutation introduces a stop codon in alternative exon 8A (which is mutually exclusive with exon 8) and ameliorates the lethality of the point mutation in heterozygotes. (J:176442, J:201506)

Disease models

Expression

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Cacna1c Mutation: 141 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: 10 reference(s)