ENU mutagenesis induced an A-to-T point mutation that results in the amino acid substitution of isoleucine with asparagine at position 557 (p.I557N). (J:309727)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count