ENU mutagenesis induced a nucleotide substitution that results in the amino acid substitution of arginine with a premature stop codon at position 382 of 1597 (R382X). Absence of the full length protein expression as confirmed by western blot analysis. (J:153050)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count