Introduction of a point mutation in codon 1744 converting GTG (valine) to GGG (glycine) in exon F. This mutation is predicted to eliminate proteolytic processing of Notch1. There is also a 42 bp pLox site insertion in the intron between exons E and F. (J:62882)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count