ENU mutagenesis induced a T-to-G point mutation that results in the amino acid substitution of tyrosine with a stop codon at position 514 (p.Y514*). (J:309727)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count