Vwf^{tm1.1(VWF*D1472H)Vhf}
Targeted Allele Detail

Summary

• Symbol: Vwf^{tm1.1(VWF*D1472H)Vhf}
• Name: Von Willebrand factor; targeted mutation 1.1, Veronica H Flood
• MGI ID: MGI:7574301
• Synonyms: VWF 1472H
• Gene: Vwf Location: Chr6:125529911-125663642 bp, + strand Genetic Position: Chr6, 59.32 cM
• Alliance: Vwf^{tm1.1(VWF*D1472H)Vhf} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:343946
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Vwf^{tm1.1(VWF*D1472H)Vhf} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  VWF (7450)

  Vwf	(MGI:98941)

  expresses human exon 28 with p.D1472H mutation

• Mutation details: The endogenous exon 28 was replaced with a modified human exon 28 where aspartic acid codon 1472 was changed to histidine (p.D1472H). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 28 was removed through subsequent Cre-mediated recombination. (J:343946)

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: 138 strains or lines available

References

• Original: J:343946 Lohmeier HK, et al., von Willebrand factor variant D1472H has no effect in mice with humanized VWF-platelet interactions. Blood Adv. 2020 Sep 8;4(17):4065-4068
• All: 1 reference(s)