Exome sequencing of this ENU induced mutation revealed a G-to-A point mutation in Notch3, which disrupts the splice donor site at the exon 31-intron 31 boundary, changing it from G-GT to G-AT. (J:176116, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count