Vwf^tm1.1Geno
Targeted Allele Detail

Summary

• Symbol: Vwf^tm1.1Geno
• Name: Von Willebrand factor; targeted mutation 1.1, Genoway
• MGI ID: MGI:6258653
• Synonyms: Vwf/p.V1316M
• Gene: Vwf Location: Chr6:125529911-125663642 bp, + strand Genetic Position: Chr6, 59.32 cM
• Alliance: Vwf^tm1.1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:250145
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 28 was replaced with one in which a single base pair modification (CTG to ATG) resulted in a valine to methionine substitution at amino acid 1316 (V1316M). A neomycin selection cassette flanked by loxP sites was inserted upstream of exon 28. This mutation is found in von Willebrand's disease type 2B patients. Cre-mediated recombination removed the neomycin cassette. (J:250145)

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 Vwf Mutation: 139 strains or lines available

References

• Original: J:250145 Adam F, et al., A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation. Sci Rep. 2016 May 23;6:26306
• All: 3 reference(s)