ENU mutagenesis induced an A to T transversion in exon 13 that results in the amino acid substitution of phenylalanine for isoleucine at position 482 (I482F). (J:168664)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count