ENU induced a T to A transversion in exon 11, disrupting a splice donor site. This results in the retention of intron 11 in the transcript leading to a small insertion followed by a premature stop codon. Expression of the mRNA is higher in mutant eyes compared to wild-type eyes. (J:188765)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count