ENU mutagenesis induced a point mutation that results in the amino acid substitution of a termination codon for tyrosine at position 119 (Y119X). The absence of protein expression was confirmed in the liver and plasma. (J:200728)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count