Clcn7^tm2.1Mjec
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm2.1Mjec
• Name: chloride channel, voltage-sensitive 7; targeted mutation 2.1, Michael Econs
• MGI ID: MGI:5904771
• Synonyms: ADO2
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm2.1Mjec page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240468
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A nucleotide substitution was created in exon 7, giving rise to a glycine to arginine codon change for codon 213 (p.G213R). This mutation is equivalent to the p.G215R mutation in human, which is associated with autosomal dominant osteopetrosis type II (ADO2). A loxP site flanked neomycin resistance gene cassette that was inserted was subsequently deleted through cre-mediated recombination. (J:240468)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

2 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:240468 Alam I, et al., Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease. Bone. 2017 Jan;94:34-41
• All: 2 reference(s)