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EN
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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
