Amino acid replacement: N20I.
Amino acid replacement: N20I. Nucleotide substitution: A?T. N-linked glycosylation site of opsin is mutated.
Construct: Amino acid replacement: N20I. N-linked glycosylation site near amino terminus is removed.
photoreceptor cell & Golgi apparatus
photoreceptor cell & rough endoplasmic reticulum
The rhabdomeres are severely reduced in size in 1 day old flies carrying ninaEΔAsn20 in a ninaE17 background. Photoreceptors show accumulations of rough ER cisternae and dilated Golgi. Electroretinograms of 3-5 day old flies show a reduced amplitude of light response and lack a prolonged depolarising afterpotential. Severe retinal degeneration is seen in 5 week old flies; the R1-R6 rhabdomeres are completely lost. Flies carrying both ninaEΔAsn20 and ninaEhs.T:Btau\1D4 in a ninaE17 background show an accumulation of ER cisternae in the photoreceptors (as is seen in the photoreceptors of flies carrying only ninaEΔAsn20 in a ninaE17 background). 5 week old flies carrying both ninaEΔAsn20 and ninaEhs.T:Btau\1D4 in a ninaE17 background show retinal defects including reduced rhabdomere size, internalized rhabdomeres, membrane accumulations, and progressive, late onset, retinal degeneration.
Microspectrophotometry (MSP) reveals minimal photopigment within a week after eclosion. Electroretinography (ERG) demonstrates that receptor cell 1-6 function is decreased 100-fold at eclosion and diminishes until only receptor cell 7 and 8 function at 11 days The PDA is small and starts to diminish at 7 days, the on off transients show the same pattern and sensitivity decreases with age. Morphometry shows the rhabdomeres are small and may decrease in size with age.
ninaEΔAsn20 is a suppressor of phenotype of norpAP24
Mutation interferes with either synthesis, deployment or maintenance of opsin.