The amino acid replacement D1430N has been introduced into the zip coding region. This mutation corresponds to the disease-associated mutation D1424N in the orthologous human MYH9 gene.
G24993426A
gat>aat
D1514N | zip-PA; D1469N | zip-PB; D1429N | zip-PC; D1474N | zip-PD; D1429N | zip-PE; D1437N | zip-PF; D1429N | zip-PG; D1437N | zip-PH; D1482N | zip-PI
D1430N
Analogous D1424N mutation in human MYH-9 implicated in MYH-9 related disease; mutation carried on in vitro construct.
Flies carrying clones expressing zipD1430N.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4Act.PU in the Johnston's organ display detached scolopidia phenotype although its penetrance is low (around 5%).
zipD1430N.Scer\UAS.T:Avic\GFP (expressed using Scer\GAL4sqh.PW) does not show dominant negative activity in a zip1/+ background: the animals complete development and eclose as adult flies simultaneously with their wild-type siblings.
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipD1430N.UAS.GFP has visible phenotype
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipD1430N.UAS.GFP has wing phenotype
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipD1430N.UAS.GFP has leg phenotype
Some adults expressing zipD1430N.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4en-e16E in a zip2/+ ; Rho1E3.10/+ background show both leg and wing abnormalities (11%), while others show wing abnormalities only (5.4%).
Scer\GAL4sqh.PW/zipD1430N.UAS.GFP partially rescues zip2/zip1
Expression of zipD1430N.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4sqh.PW rescues the embryonic lethality of zip1/zip2 animals. 72 +/- 5% of the rescued animals survive to the pupal stage, but no animals survive to the adult stage.