ENU mutagenesis induced a T-to-C point mutation in splice donor site of exon3/intron 3, changing it from G-GT to G-GC. This leads to splice anomalies where intron 3 sequences are included or where exon 3 is skipped, causing frameshifts and premature stop codons. (J:227336)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count