Clcn7^tm1.1Teti
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm1.1Teti
• Name: chloride channel, voltage-sensitive 7; targeted mutation 1.1, Anna Teti
• MGI ID: MGI:5563089
• Synonyms: L'Aquila
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm1.1Teti page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:203761
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 7 with a G to A transition at position 14365 resulting in a glycine to arginine amino acid substitution at position 213 (G213R), mimicking a dominant mutation found in autosomal dominant osteopetrosis type 2 (ADO2) patients, was flanked by loxP sites. An frt flanked neo cassette was inserted downstream of exon 7 and was removed by flp mediated recombination. (J:203761)

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:203761 Alam I, et al., Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models. Bone. 2014 Feb;59:66-75
• All: 2 reference(s)