ENU mutagenesis induced a G-to-A point mutation in intron 21, five nucleotides from the end of exon 21. This mutation alters splicing and introduces a premature termination codon in exon 21, generating a predicted protein ~30% of the length of wild-type protein. (J:225386)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count