Clcn7^tm2Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm2Tjj
• Name: chloride channel, voltage-sensitive 7; targeted mutation 2, Thomas J Jentsch
• MGI ID: MGI:2387676
• Synonyms: C7B, Clcn7^-
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm2Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67273
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: A lacZ-neo cassette was inserted in-frame into exon 7, resulting in a fusion protein and deletion of exons 8-10. Normal transcripts were not observed in homozygous mutant animals as shown by Northern blot analysis. The fusion protein was detected by Western blot of embryonic fibroblast lysates derived from homozygous mutant embryos. (J:67273)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 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: 42 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: 6 reference(s)