The amino acid replacement R1171C has been introduced into the zip coding region. This mutation corresponds to the disease-associated mutation R1165C in the orthologous human MYH9 gene.
C24994293T
cgc>tgc
R1255C | zip-PA; R1210C | zip-PB; R1170C | zip-PC; R1215C | zip-PD; R1170C | zip-PE; R1178C | zip-PF; R1170C | zip-PG; R1178C | zip-PH; R1223C | zip-PI
R1171C
Analogous R1165C mutation in human MYH-9 implicated in MYH-9 related disease mutation carried on in vitro construct.
Flies carrying clones expressing zipR1171C.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4Act.PU in the Johnston's organ display detached scolopidia phenotype.
zipR1171C.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, zipR1171C.UAS.GFP has visible phenotype
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipR1171C.UAS.GFP has wing phenotype
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipR1171C.UAS.GFP has leg phenotype
Many adults expressing zipR1171C.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4en-e16E in a zip2/+ ; Rho1E3.10/+ background show both leg and wing abnormalities (26%), while others show wing abnormalities only (56%).
zipR1171C.UAS.GFP/Scer\GAL4sqh.PW partially rescues zip2/zip1
Expression of zipR1171C.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4sqh.PW rescues the embryonic lethality of zip1/zip2 animals. 62 +/- 10% of the rescued animals survive to the pupal stage, but only 18 +/- 12% eclose as adults.