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Slc12a6tm1.1Garo
Targeted Allele Detail
Summary
Symbol: Slc12a6tm1.1Garo
Name: solute carrier family 12, member 6; targeted mutation 1.1, Guy A Rouleau
MGI ID: MGI:5318539
Synonyms: Slc12a6delta18
Gene: Slc12a6  Location: Chr2:112096659-112193508 bp, + strand  Genetic Position: Chr2, 56.99 cM
Alliance: Slc12a6tm1.1Garo page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:183239
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsAn FRT and LoxP flanked neo cassette was inserted upstream of exon 18 and a loxP site was inserted downstream of exon 18 via homologous recombination. Cre mediated recombination removed exon 18. RT-PCR analysis detected the presence of a lower molecular weight product. Western blot analysis detected a small amount of truncated protein in brain lysates from homozygous mice. (J:183239)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
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:  120 strains or lines available
References
Original:  J:183239 Shekarabi M, et al., Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. J Neurosci. 2012 Mar 14;32(11):3865-76
All:  2 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
12/10/2024
MGI 6.24
The Jackson Laboratory