Clcn6^tm1Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn6^tm1Tjj
• 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: Clcn6^tm1Tjj page

Characterization of storage material and axonal swelling in Clcn6^tm1Tjj/Clcn6^tm1Tjj mice

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

Mutation origin

• 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⁺

Mutation description

• 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)

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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 Clcn6 Mutation: 89 strains or lines available

References

• 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)