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Clcn7tm1Tjj
Targeted Allele Detail
Nomenclature
Symbol: Clcn7tm1Tjj
Name: chloride channel, voltage-sensitive 7; targeted mutation 1, Thomas J Jentsch
MGI ID: MGI:2387675
Synonyms: C7A, Clcn7-
Gene: Clcn7  Location: Chr17:25133391-25162104 bp, + strand  Genetic Position: Chr17, 12.53 cM, cytoband A3.3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67273
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was disrupted by replacement of exons 3-7 with a neomycin resistance cassette. RT-PCR and Western blot using antibodies directed against the N-terminus of the protein confirmed the absence of gene expression in homozygous mutant mice. (J:67273)
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: 6 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 Clcn7 Mutation:  3 strains or lines available
References
Original:  J:67273 Kornak U, et al., Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001 Jan 26;104(2):205-15
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory