The targeting vector is designed to insert three point mutations (R117A / Y120A / E123A) in the 5' region of the gene. The mutations result in loss of B-site specific DNA binding. The targeting construct also included an FRT-flanked neomycin (neo) cassette Flp-mediated recombination removed the neo cassette. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count