ENU mutagenesis induced an-A to-G point mutation that results in the amino acid substitution of methionine with lysine at position 248 (p.M248K). (J:309727)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count