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Cadps2tm1Tfr
Targeted Allele Detail
Nomenclature
Symbol: Cadps2tm1Tfr
Name: Ca2+-dependent activator protein for secretion 2; targeted mutation 1, Teiichi Furuichi
MGI ID: MGI:3707315
Synonyms: Caps2-
Gene: Cadps2  Location: Chr6:23262773-23839420 bp, - strand  Genetic Position: Chr6, 10.57 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:121256
Parent Cell Line:  MS12 (ES Cell)
Strain of Origin:  C57BL/6NSlc
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cadps2 Mutation:  42 strains or lines available
References
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
All:  10 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
07/10/2018
MGI 6.12
The Jackson Laboratory