A T to A transition in the 5' splice site of intron 7 was induced by ENU mutagenesis. This mutation results in the skipping of exon 7 during splicing and a frame shift that causes the introduction of 12 anomalous amino acids after N279 and a premature stop. (J:125425)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count