The amino acid replacement D1847K has been introduced into the zip coding region. This mutation corresponds to the disease-associated mutation E1841K in the orthologous human MYH9 gene.
GAC24992113AAG
gac>aag
D1931K | zip-PA; D1886K | zip-PB; D1846K | zip-PC; D1891K | zip-PD; D1846K | zip-PE; D1854K | zip-PF; D1846K | zip-PG; D1854K | zip-PH; D1899K | zip-PI
D1847K
Analogous E1841K mutation in human MYH-9 implicated in MYH-9 related disease; mutation carried on in vitro construct.
Flies carrying clones expressing zipD1847K.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4Act.PU in the Johnston's organ display detached scolopidia phenotype.
zipD1847K.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, zipD1847K.UAS.GFP has visible phenotype
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipD1847K.UAS.GFP has wing phenotype
Rho1E3.10/Rho1[+], Scer\GAL4en-e16E, zip2, zipD1847K.UAS.GFP has leg phenotype
Some adults expressing zipD1847K.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4en-e16E in a zip2/+ ; Rho1E3.10/+ background show both leg and wing abnormalities (8.2%).
zipD1847K.UAS.GFP/Scer\GAL4sqh.PW partially rescues zip2/zip1
Expression of zipD1847K.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4sqh.PW rescues the embryonic lethality of zip1/zip2 animals. 85 +/- 12% of the rescued animals survive to the pupal stage, but no animals survive to the adult stage.