ENU mutagenesis induced a G-to-T substitution in exon 9 of the gene. This is preducted to result in a conserved valine to phenylalanine substitution in the WD40 repeat region of the encoded protein. (J:185194)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count