The conserved serine at position 2053 was mutated to an aspartic acid and an FRT flanked neo cassette was inserted in the upstream intron via homologous recombination. Flp mediated recombination removed the neo cassette. This mutation produces a protein with a phosphomimetic substitution. (J:220823)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count