Clcn7^tm1Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm1Tjj
• Name: chloride channel, voltage-sensitive 7; targeted mutation 1, Thomas J Jentsch
• MGI ID: MGI:2387675
• Synonyms: C7A, Clcn7^-
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm1Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67273
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The gene was disrupted by replacement of exons 3-7 with a neomycin resistance cassette. RT-PCR and Western blot using antibodies directed against the N-terminus of the protein confirmed the absence of gene expression in homozygous mutant mice. (J:67273)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Clcn7 Mutation: 40 strains or lines available

References

• 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: 9 reference(s)