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| Nomenclature |
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Symbol:
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Cadps2tm1Tfr
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Name:
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Ca2+-dependent activator protein for secretion 2;
targeted mutation 1, Teiichi Furuichi
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MGI ID: |
MGI:3707315 |
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Synonyms: |
Caps2- |
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Gene:
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Cadps2
Location:
Chr6:23262773-23839420 bp, - strand
Genetic Position: Chr6,
10.57 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:121256
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Parent Cell Line:
| MS12 (ES Cell) |
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Strain of Origin:
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C57BL/6CrSlc
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 1 was replaced by a pgk-neo cassette flanked by loxP sites. Western blot confirmed absence of protein in mutant cerebellum, neocortex and hippocampus. (J:120106, J:121256)
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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 Cadps2 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:121256
Sadakata T et al.,
"Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients."
J Clin Invest 2007 Apr;117(4):931-43
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All: |
7 reference(s)
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