ENU mutagenesis induced an A to T point mutation in the 5' splice donor site in the intron between exons 4 and 5. The mutation disrupts splicing of exon 4 and excludes it from the transcript. (J:226653)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count