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Slc12a6tm1Tjj
Targeted Allele Detail
Nomenclature
Symbol: Slc12a6tm1Tjj
Name: solute carrier family 12, member 6; targeted mutation 1, Thomas J Jentsch
MGI ID: MGI:2680042
Gene: Slc12a6  Location: Chr2:112266042-112363163 bp, + strand  Genetic Position: Chr2, 56.99 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:86183
Parent Cell Line:  MPI-II (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA cassette containing lacZ and neo replaced a 2.2 kb genomic fragment encompassing 95 bp of exon 3 and all of exon 4. While normal protein was undetected by Western blot analysis of various tissues obtained from homozygous mutant mice, expression of a hybrid protein consisting of the endogenous N-terminal fused to lacZ was detected. (J:86183)
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: 13 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
References
Original:  J:86183 Boettger T, et al., Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J. 2003 Oct 15;22(20):5422-34
All:  3 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
02/12/2019
MGI 6.13
The Jackson Laboratory