Most of exon 12 through exon 16 was replaced by a construct containing a human cDNA with point mutations (A to T at the second codon position) that replace tyrosines with alanines at positions 941, 1054, 1197, 1222, 1260, 1276 and 1289 (within YXXM of the PI3K p85 concensus binding sites) and a floxed neo cassette. Cre-mediated recombination removed the neo cassette. (J:189292)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count