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Allele : Vwf<tm1.1Geno> Von Willebrand factor; targeted mutation 1.1, Genoway

Primary Identifier  MGI:6258653 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Vwf
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Vwf/p.V1316M,
  • Vwf/p.V1316M
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

6 Publication categories

Trail: Allele