The conserved aspartic acid at position 3922 was mutated to an alanine (p.D3922A) and a floxed neo cassette was inserted ~600 bp upstream via homologous recombination. Cre mediated recombination removed the neo cassette. This mutation expresses a catalytically inactive mutant protein. (J:220823)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count