Wfs1^tm1.1Bedel
Targeted Allele Detail

Summary

• Symbol: Wfs1^tm1.1Bedel
• Name: wolframin ER transmembrane glycoprotein; targeted mutation 1.1, Benjamin Delprat
• MGI ID: MGI:7571399
• Synonyms: Wfs1^E864K
• Gene: Wfs1 Location: Chr5:37123448-37146326 bp, - strand Genetic Position: Chr5, 19.46 cM
• Alliance: Wfs1^tm1.1Bedel page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342760
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Glutamic acid codon 864 (GAA) in exon 8 was changed to lysine (AAA) (c.2590G>A, p.E864K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 8. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with Wolfram syndrome (WS). (J:342760)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:342760 Richard EM, et al., Wfs1(E864K) knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production. Cell Death Dis. 2023 Jun 29;14(6):387
• All: 1 reference(s)