FlyBase curator comment: 'epidermolysis bullosa simplex' disease subtype 'epidermolysis bullosa simplex Dowling-Meara type' is associated with the 'R125C' mutation of the gene KRT14.
Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa, Scer\GAL4Ubi.PU has viable phenotype
Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa, Scer\GAL4Act5C.PU has viable phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Ubi.PU has partially lethal - majority die phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4pnr-MD237 has flightless phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has visible phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa, Scer\GAL4Act5C.PU has lethal phenotype
Hsap\KRT14R125P.UAS.YFP, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has visible phenotype
Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa, Scer\GAL4Act5C.PU has visible | adult stage phenotype
Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa, Scer\GAL4Act5C.PU has lethal phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has lethal phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has visible phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has some die during pupal stage phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4pnr-MD237 has wing phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has wing phenotype
Hsap\KRT14R125P.UAS.YFP, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has wing phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has wing phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has scutellar pulsatile organ | progressive phenotype
Hsap\KRT14R125C.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5[+], Scer\GAL4Act5C.PU has scutellar pulsatile organ | pupal stage phenotype
Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14WT.UAS/+, Hsap\KRT5UAS.cBa/+ is viable and individuals do not show any obvious phenotype, but co-expression of Hsap\KRT14WT.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5UAS.cBa is lethal.
Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14R125C.UAS/+, Hsap\KRT5UAS.cBa/+ induces almost complete lethality and adult escapers exhibit wing defects, including blisters that are full with hemolymph and the abnormal retention of intervein cells, and structural functional wing heart defects, namely missing parts of the epithelium that prevent backflow of hemolymph leading to no net movement out of the wing. No wing heart development defects are observed until 30-35h after puparium formation, but immediately afterwards wing heart epithelial cell structures not directly attached to the muscle disintegrate.
Wing blisters are also observed upon co-expression of Hsap\KRT14R125C.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/+, but not of Hsap\KRT14WT.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/+. Scer\GAL4Act5C.PU-driven co-expression of Hsap\KRT14R125C.UAS/Hsap\KRT14WT.UAS, Hsap\KRT5UAS.cBa/Hsap\KRT5UAS.cBa induces lethality.
Adults co-expressing Hsap\KRT14R125P.UAS.YFP and Hsap\KRT5UAS.cBa under the control of Scer\GAL4Act5C.PU exhibit wing blisters that are full with hemolymph.
Scer\GAL4Hand.PA-driven co-expression of Hsap\KRT14R125C.UAS/+, Hsap\KRT5UAS.cBa/+ does not lead to any obvious phenotype.
Scer\GAL4pnr-MD237-driven co-expression of Hsap\KRT14R125C.UAS/+, Hsap\KRT5UAS.cBa/+ also leads to wing blistering and flightlessness.