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Wfs1tm1Koks
Targeted Allele Detail
Summary
Symbol: Wfs1tm1Koks
Name: wolframin ER transmembrane glycoprotein; targeted mutation 1, Sulev Koks
MGI ID: MGI:3835761
Synonyms: Wfs1bgal, Wfs1deltaExon8, Wfs1KO, Wfs1tm1Sira
Gene: Wfs1  Location: Chr5:37123448-37146326 bp, - strand  Genetic Position: Chr5, 19.46 cM
Alliance: Wfs1tm1Koks page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:139997
Parent Cell Line:  W4 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA NLS-LACZ-Neo cassette was replaced most of exon 8, which corresponds to amino acids 360-890 in the encoded protein. The absence of protein expression and the expression of the reporter fusion product was confirmed by immunohistochemistry on brain samples. (J:139997, J:157967)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 12 assay results
4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 8 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 Wfs1 Mutation:  46 strains or lines available
References
Original:  J:139997 Luuk H, et al., Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. J Comp Neurol. 2008 Aug 20;509(6):642-60
All:  31 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