ENU mutagenesis induced a T to A transversion upstream of the 3' splice site of intron 4 that results in splice site mutation to exclude exon 5 from the transcript. QRT-PCR confirmed reduced transcript expression in heterozygotes. (J:201509)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count