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Clcn2nmf289
Chemically induced Allele Detail
Nomenclature
Symbol: Clcn2nmf289
Name: chloride channel, voltage-sensitive 2; neuroscience mutagenesis facility, 289
MGI ID: MGI:5912306
Gene: Clcn2  Location: Chr16:20702964-20717746 bp, - strand  Genetic Position: Chr16, 12.5 cM
Mutation
origin
Strain of Origin:  BALB/cByJ or C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThe mutation is identified as G to T mutation at nucleotide position 1445, resulting in a glycine to valine missense mutation at residue 482 (G482V). The mutation occurs in a transmembrane segment that contains part of the chloride ion selectivity filter. (J:243745)
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: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Clcn2 Mutation:  8 strains or lines available
References
Original:  J:243745 Krebs MP, et al., Mouse models of human ocular disease for translational research. PLoS One. 2017;12(8):e0183837
All:  1 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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last database update
09/05/2019
MGI 6.14
The Jackson Laboratory