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| Nomenclature |
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Symbol:
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Cacna1ctm2Itl
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Name:
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calcium channel, voltage-dependent, L type, alpha 1C subunit;
targeted mutation 2, inGenious Targeting Laboratories
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MGI ID: |
MGI:5296904 |
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Synonyms: |
Ts2-neo |
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Gene:
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Cacna1c
Location:
Chr6:118592319-118780324 bp, - strand
Genetic Position: Chr6,
55.86 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:176442
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cacna1c Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
