ENU mutagenesis induced a G to A point mutation in intron 13. This mutation affects the splice donor site and results in skipping of exon 13. Western blot analysis confirmed the expression of a smaller than full-length protein product. (J:236598)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count