Exon 10 was replaced with one containing a point mutation resulting in a tyrosine to phenylalanine change at amino acid 416 (Y416F) and exon 11 was flanked by loxP sites. In addition, a neomycin resistance cassette flanked by FRT sites was inserted upstream of exon 11. Flp-mediated recombination removed the neo cassette, leaving a mutant exon 10 and floxed exon 11. The Y416F mutation abrogates AKT signaling. (J:268135)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count