ENU mutagenesis induced an A to G transition at position 220 (no source sequence accession number provided) resulting in the amino acid subsitution of alanine for threonine at position 74 (T74A). Reduced steady-state protein levels were confirmed by western blot analysis on embryo extracts. (J:159240)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count