This ENU induced c.813+1G>A point transition in a splice acceptor results in the generation of multiple isoforms that lead to premature termination or transcripts with an in-frame deletion of an early exon. (J:243745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count