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Targeted Allele Detail
Symbol: Clcn6tm1Tjj
Name: chloride channel 6; targeted mutation 1, Thomas J Jentsch
MGI ID: MGI:3687967
Synonyms: Clcn6-
Gene: Clcn6  Location: Chr4:148004259-148038821 bp, - strand  Genetic Position: Chr4, 78.67 cM, cytoband E1
Characterization of storage material and axonal swelling in Clcn6tm1Tjj/Clcn6tm1Tjj mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:113752
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA lacZneo replaced the downstream end of exon 7. Western blot failed to detect protein in mutant animals in all tissues examined. (J:113752)
View phenotypes for all genotypes (concatenated display).
Disease models
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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 Clcn6 Mutation:  36 strains or lines available
Original:  J:113752 Poet M, et al., Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory