ENU mutagenesis induced a T to A point mutation that results in the amino acid substitution of a termination codon for tyrosine at position 172 (Y172X). Western blot analysis confirmed the absence of protein expression in the brain. (J:211825)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count