Wfs1^tm1Koks
Targeted Allele Detail

Summary

• Symbol: Wfs1^tm1Koks
• Name: wolframin ER transmembrane glycoprotein; targeted mutation 1, Sulev Koks
• MGI ID: MGI:3835761
• Synonyms: Wfs1^bgal, Wfs1^deltaExon8, Wfs1KO, Wfs1^tm1Sira
• Gene: Wfs1 Location: Chr5:37123448-37146326 bp, - strand Genetic Position: Chr5, 19.46 cM
• Alliance: Wfs1^tm1Koks 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 details: A 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)

Disease models

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)