ENU mutagenesis induced a T to A transversion in exon 12 that results in the amino acid substitution of serine for cysteine at position 397 (C397S). (J:168664)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count