Clcn7^tm4.1Tjj
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm4.1Tjj
• Name: chloride channel, voltage-sensitive 7; targeted mutation 4.1, Thomas J Jentsch
• MGI ID: MGI:4459519
• Synonyms: Clcn7^E245A, Clcn7^unc
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm4.1Tjj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160702
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitutions result in the amino acid substitution of alanine for glutamic acid at position 245 (E245A). This mutation is predicted to uncouple the chloride ion conduction from the proton exchanger function. An frt flanked neo cassette inserted upstream of exon 8 was removed by flp mediated recombination. (J:160702)

Expression

In Structures Affected by this Mutation:

5 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:160702 Weinert S, et al., Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Science. 2010 Jun 11;328(5984):1401-3
• All: 3 reference(s)