This mutation was identified in a screen of G3 progeny of an ENU mutagenized male mouse for susceptibility to induction of colitis by dextran sulfate sodium (DSS) (DSS-induced Colitis Screen). The mutation comprises a G to T transversion at nucleotide position 1711, in the 13th of the gene's 47 exons. It is predicted to result in substitution, at amino acid position 561, of phenylalanine for a conserved cysteine in the second von Willebrand factor type D (VWFD) domain of the protein. (J:150326)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
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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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Phenotypes

References Literature

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PMID
Journal
Year
IF
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