This mutation was identified in a forward genetics screen for mutations affecting forebrain development in mice. A single nonsense mutation in exon 59 of 67 of the Wdfy3 gene (T to A at position 9,683 of NM_172882, aa 3,046 of 3,508) was identified as the causative mutation, and introduces a premature stop codon. (J:225200)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count