ENU mutagenesis induced a c.1660G>A point mutation that results in the amino acid substitution of alanaine with threonine at position 554 (p.A554T). (J:234901)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count