Clcn7^tm1.1Mjec
Targeted Allele Detail

Summary

• Symbol: Clcn7^tm1.1Mjec
• Name: chloride channel, voltage-sensitive 7; targeted mutation 1.1, Michael J Econs
• MGI ID: MGI:5563124
• Synonyms: Clcn7^G213R, Indiana
• Gene: Clcn7 Location: Chr17:25352365-25381078 bp, + strand Genetic Position: Chr17, 12.53 cM, cytoband A3.3
• Alliance: Clcn7^tm1.1Mjec page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:203761
• Parent Cell Line: CCE916 (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP sites flanked second copy of exon 6 with an inserted stop codon, a neomycin resistance gene flanked by loxP sites in intron 5, and an 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) in humans were inserted. The extra exon 6 and the PKG-neo cassette were removed via cre-mediated recombination by mating with Ella-Cre transgenic mice leaving the G213R mutation in exon 7. (J:203761)

Disease models

Expression

In Structures Affected by this Mutation:

4 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:203761 Alam I, et al., Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models. Bone. 2014 Feb;59:66-75
• All: 4 reference(s)