ENU mutagenesis induced a C to T mutation that results in the amino acid substitution of a termination codon for glutamine at position 263 (Q263X). The mutation causes a premature stop codon deleting the second half of the protein. Western blot analysis confirmed the absence of protein expression in the brain, liver and kidney. (J:234835)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count