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Targeted Allele Detail
Symbol: Clcn7tm1.1Mjec
Name: chloride channel, voltage-sensitive 7; targeted mutation 1.1, Michael J Econs
MGI ID: MGI:5563124
Synonyms: Clcn7G213R, Indiana
Gene: Clcn7  Location: Chr17:25133391-25162104 bp, + strand  Genetic Position: Chr17, 12.53 cM, cytoband A3.3
Germline Transmission:  Earliest citation of germline transmission: J:203761
Parent Cell Line:  CCE916 (ES Cell)
Strain of Origin:  129S/SvEv
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 4 anatomical structures
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:  3 strains or lines available
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.16
The Jackson Laboratory