ENU induced a C to T mutation (third position of the boxed triplet codon) in exon 7. This mutation creates a new splice site resulting in expression of an mRNA lacking a 48 bp region of the 5' end of exon 7. The mutant protein lacks the first 16 amino acids of exon 7. (J:220593)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count