ENU induced an A-to-C mutation in the exon 3 splice acceptor, changing it from CAG to CCG. Abnormally spliced transcripts lacked the DNA binding domain encoding sequence. (J:98216)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count