ENU treatment induced a T-to-A transversion at position -292 upstream of the start codon in 5' UTR exon 2. This mutation changes putative initiation methionine codon ATG to AAG and abolishes translation of the corresponding upstream open reading frame. (J:150720)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count