An inverted floxed pgk-neo cassette was inserted in intron 19 and codon 838 was changed to TAC from TAT in exon 20 via homologous recombination. This results in a D838Y mutation corresponding to the D835Y mutation seen in patients with acute myeloid leukemia. Removal of the neo cassette increases expression and activity of this allele. (J:205200)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count