This mutation was identified in the Munich ENU dominant mutagenesis screen. A T to A transverion was identified within intron 50, generating a novel 3' splice acceptor site. The mutation results in a 16 base expansion of the transcript. (J:129569)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count