An engineered point mutation in codon 719 resulted in a tyrosine to phenylalanine substitution (Y719F). Western blot analysis showed the level of mutant protein in homozygous mutant mice to be similar to that of the wild-type protein in wild-type mice. PI 3'-kinase activity was determined to be reduced by approximately 90% via assays of the PI 3'-kinase dependent activation of Akt. (J:60192)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count