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Clcn7tm1.1Teti
Targeted Allele Detail
Nomenclature
Symbol: Clcn7tm1.1Teti
Name: chloride channel, voltage-sensitive 7; targeted mutation 1.1, Anna Teti
MGI ID: MGI:5563089
Synonyms: L'Aquila
Gene: Clcn7  Location: Chr17:25133391-25162104 bp, + strand  Genetic Position: Chr17, 12.53 cM, cytoband A3.3
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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 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:  4 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory