Construct: Amino acid replacement: L81Q. 5.5kb KpnI fragment of ninaE.
Flies homozygous for ninaEL81Q in a ninaE17 background have a significantly larger electroretinogram (ERG) amplitude than that of ninaE17 flies. The prolonged depolarizing afterpotential is absent in flies homozygous for ninaEL81Q in a ninaE17 background, but otherwise the ERG responses are similar to wild-type in both amplitude and waveform, and the on- and off-transients are present. Flies homozygous for ninaEL81Q in a ninaE17 background have intact rhabdomeres and normal subrhabdomeral catacombs at eclosion. Microvilli remain largely intact until approximately 4 weeks after eclosion, when the catacomb-like structures deteriorate and the rhabdomere membrane begins to fill the rhabdomeric stalk as vesicles or sheets of apposed membranes. Approximately half the R1-R6 rhabdomres have degenerated by 8 weeks after eclosion, and signs of membrane shedding into the extracellular cavity are visible. This phenotype is completely recessive.
Flies homozygous for ninaEL81Q in a ninaE17 background have approximately 20% of the wild-type amount of rhodopsin.