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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count