An FRT-flanked puromycin resistance cassette was inserted upstream of a modified exon 14 in which a pint mutation results in the amino acid substitution of alanine for arginine at position 582 (R582A). This mutation results in a product that exhibits profoundly impaired activation by glucose-6-phosphate. However, regulation by reversible phosphorylation remains intact. Flp-mediated recombination removed the selection cassette. Western blot analysis confirmed reduced protein expression in the liver. (J:208923)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count