Amino acid replacement: Y162C.
Contains the Y162C mutation, equivalent to Y174C in human ORC4 that is known to cause Meier-Gorlin Syndrome. Additionally contains silent mutations to mutate the protospacer adjacent motif site and to generate a novel NdeI cut site for molecular screening.
A24796748G
A>G
Y162C | Orc4-PA
Y162C
Analogous Y174C mutation in human ORC4 implicated in Meier-Gorlin syndrome 2.
Orc4Y162C homozygotes show several bristle defects compared to controls: wing-margin bristles are disorganized and vary in length, and several thorax bristles are missing, namely scutellar bristles.
While Orc4Y162C homozygotes ovarioles appear largely normal and egg chambers are identifiable through stage 14, stage 10 egg chambers show follicle-cells with disrupted patterning and significantly fewer nurse cells (along with a wider distribution in the number of nurse cell per egg chamber); the amplification of chorion genes is absent (i.e. lower Hoechst signal). Eggs laid by Orc4Y162C homozygous females don't have dorsal appendages and appear watery and malformed when compared to controls.
Orc4Y162C heterozygous females bearing germline clones lay much fewer eggs that still exhibit normal dorsal appendages; the resulting embryos show general morphological defects.