Version: 8.0.0
Date: Tue Jan 28 2025
Vwftm1.1Geno
MGI:6258653
Allele of Vwf
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Vwftm1.1Geno

Species
Mus musculus
Symbol
Vwftm1.1Geno
Category
allele
Allele of gene
Vwf
Transgenic Constructs
None
Synonyms
  • Vwf/p.V1316M
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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