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Slc12a6tm1Dlp
Targeted Allele Detail
Nomenclature
Symbol: Slc12a6tm1Dlp
Name: solute carrier family 12, member 6; targeted mutation 1, Eric Delpire
MGI ID: MGI:2429639
Synonyms: KCC3-, Slc12a6tm1Garo
Gene: Slc12a6  Location: Chr2:112266042-112363163 bp, + strand  Genetic Position: Chr2, 56.99 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:79870
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was disrupted by replacement of exon 3 with a lacZ-neo cassette containing a splice acceptor site and IRES sequence. Absence of gene expression in homozygous mutant animals was verified by Western blot analysis of brain microsomal proteins using antibodies directed against the N-terminus. (J:79870)
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: 3 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 Slc12a6 Mutation:  81 strains or lines available
Notes
ES cell line = LT-1.
References
Original:  J:79870 Howard HC, et al., The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92
All:  7 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
02/05/2019
MGI 6.13
The Jackson Laboratory