A genomic fragment (Pacman clone CH3222-77E05) containing the entire ATP7 gene, with an EGFP tag inserted at the C-terminal end of the open reading frame. The ATP7 coding sequence has been mutated to contain an amino acid substitution equivalent to a H1069Q change in the orthologous human ATP7A gene (this variant is associated with Wilson disease). (FlyBase curator comment: the mutation in the ATP7 gene is given as H778Q in FBrf0235010, however analysis of the release 6.32 annotated gene model indicates the change to be H788Q).
T11862226A
H788Q | ATP7-PB; H788Q | ATP7-PC
H778Q
Analogous H1069Q mutation in human ATP7B implicated in Wilson disease; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.
ATP7WND.EGFP partially rescues ATP7ΔP17
The lethality of ATP7ΔP17/Y hemizygous males can be rescued by combination with ATP7WND.T:Avic\GFP-EGFP as the flies survive to adulthood. When isolated as larvae and reared under density-controlled conditions without the presence of wild-type siblings very few adults emerge. Combination with ATP7WND.T:Avic\GFP-EGFP however significantly improves the minimal post-hatching growth as well as mouthpart development and pigmentation defects of ATP7ΔP17 mutant male larvae.
