ENU mutagenesis induced a T to A point mutation in the splice acceptor site of intron 14 that results in the incorporation of 109 bp intronic sequence into the mature transcript and a premature termination codon. (J:221543)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count