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Targeted Allele Detail
Symbol: Clcn7tm2Tjj
Name: chloride channel, voltage-sensitive 7; targeted mutation 2, Thomas J Jentsch
MGI ID: MGI:2387676
Synonyms: C7B, Clcn7-
Gene: Clcn7  Location: Chr17:25133391-25162104 bp, + strand  Genetic Position: Chr17, 12.53 cM, cytoband A3.3
Germline Transmission:  Earliest citation of germline transmission: J:67273
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
Mutation detailsA lacZ-neo cassette was inserted in-frame into exon 7, resulting in a fusion protein and deletion of exons 8-10. Normal transcripts were not observed in homozygous mutant animals as shown by Northern blot analysis. The fusion protein was detected by Western blot of embryonic fibroblast lysates derived from homozygous mutant embryos. (J:67273)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 9 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
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
MGI 6.16
The Jackson Laboratory