Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Clcn6tm1Tjj Name: chloride channel, voltage-sensitive 6; targeted mutation 1, Thomas J Jentsch MGI ID: MGI:3687967 Synonyms: Clcn6- Gene: Clcn6  Location: Chr4:148088716-148123270 bp, - strand  Genetic Position: Chr4, 78.67 cM, cytoband E1 Alliance: Clcn6tm1Tjj page

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 details: A 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 and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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:	89 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:	2 reference(s)