Clcn5^tm1Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn5^tm1Tjj
• Name: chloride channel, voltage-sensitive 5; targeted mutation 1, Thomas J Jentsch
• MGI ID: MGI:2181018
• Synonyms: ClC-5, clcn5^-
• Gene: Clcn5 Location: ChrX:7020049-7185597 bp, - strand Genetic Position: ChrX, 3.21 cM, cytoband F3-F4
• Alliance: Clcn5^tm1Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77111
• Parent Cell Line: MPI-II (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A lacZ-neomycin fusion gene replaced the 3' portion of exon 5 and all of exon 6. The deleted sequence encoded the functionally essential region between transmembrane domains 2 and 5. Northern blot anlaysis showed a lack of transcript in the kidneys of hemizygous mutant mice while Western blot analysis confirmed the absence of protein in extracts derived from various hemizygous mutant tissues. (J:77111)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(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 Clcn5 Mutation: 17 strains or lines available

References

• Original: J:77111 Piwon N, et al., ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature. 2000 Nov 16;408(6810):369-73
• All: 11 reference(s)