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Slc12a2K842*
Spontaneous Allele Detail
Summary
Symbol: Slc12a2K842*
Name: solute carrier family 12, member 2; Lys842Stop
MGI ID: MGI:5538334
Gene: Slc12a2  Location: Chr18:58011750-58079893 bp, + strand  Genetic Position: Chr18, 32.15 cM
Alliance: Slc12a2K842* page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsAn A-to-T transversion in exon 17 changes the lysine (K) at codon 842 into a stop codon. Western blot analysis of whole brain tissue confirmed the absence of protein expression in homozygous mice. This mutation arose in a strain carrying the Tg(Nes-cre/ERT2)1Fsh transgene. (J:201156)
Inheritance:    Not Specified
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 Slc12a2 Mutation:  58 strains or lines available
References
Original:  J:201156 Antoine MW, et al., A causative link between inner ear defects and long-term striatal dysfunction. Science. 2013 Sep 6;341(6150):1120-3
All:  3 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
11/12/2024
MGI 6.24
The Jackson Laboratory