FB2024_04 , released June 25, 2024
Allele: Dmel\norpAEE5
Open Close
General Information
Symbol
Dmel\norpAEE5
Species
D. melanogaster
Name
FlyBase ID
FBal0013100
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
norpA7
Key Links
Nature of the Allele
Progenitor genotype
Cytology
Description
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 1 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
model of  retinal disease
is ameliorated by AP-2α06694
is ameliorated by Arr2K391A
is ameliorated by Arr2R393A
is ameliorated by RelE20
is ameliorated by RelE38
is ameliorated by key1
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

norpA7 mutants have no visual transduction in 90% of photoreceptor cells.

norpA7 mutant flies on 4 days of light exposure show retinal degeneration and loss of some photoreceptors; by 7 days of exposure they have undergone complete retinal degeneration with loss of most of the photoreceptors. No retinal degeneration is seen in dark-raised flies as compared to the WT control.

norpA7 mutants exposed to six days constant light display retinal degeneration. This degeneration is characterised by a decrease in rhabdomeres and disorganisation of the ommatidial array. Exposure to eight days of constant light leads to a complete loss of rhabdomeres.

After 4 weeks of constant light, norpA7 flies begin to exhibit signs of retinal degeneration. There is a decrease in the number of rhabdomeres with approximately 5 remaining per ommatidium. The rhabdomeres that remain are shrunken and exhibit vacuolization.

Mutant flies do not show defects in auditory responses, as measured by the sound-evoked compound action potentials in the antennal nerve and the displacement response of the antenna over a range of sound particle velocities.

norpA7 flies show a normal lifespan on dead yeast medium, but show reduced survival compared to controls on live yeast medium. The gut cells of the mutant flies fed on live yeast medium show severe apoptosis (the gut cells of mutant flies fed on dead yeast medium do not show severe apoptosis).

norpA7 flies show a 100-fold increase in the number of yeast colony-forming units (CFUs) in the gut compared to control flies when fed on live yeast medium.

norpA7 mutants exhibit greatly reduced thermotactic behaviour, losing the 18[o]C versus 24[o]C preference found in wild-type.

Mutant flies maintain a high level of activity in an open field arena over the full 10-minute assay (wild-type flies show a decay in locomotor activity over time in this assay).

norpA7 somatic mutant eye clones from animals raised in the dark and then exposed to 5 days of constant room light show massive retinal degeneration. These mutants exhibit loss of ommatidial organisation, and shrinking or disappearance of most of the rhabdomeres.

Electroretinograms show that, in contrast to controls, a light-stimulated change in the membrane potential of retinal photoreceptors is not observed in norpA7 flies.

By 21 days after eclosion, norpA7 flies display light-dependent retinal degeneration, characterized by irregularly shaped ommatidia with intracellular vacuoles and the loss of multiple photoreceptor cells.

Retinas from norpA7 mutant flies raised under continuous light conditions show no apparent retinal degeneration after 1 day, though degeneration (smaller rhabdomeres, some vacuolation) is evident by 6 days after eclosion.

norpA7 animals do not have a deep pseudopupil after 10 days in a normal light/dark cycle, indicating light-dependent retinal degeneration.

norpA7 animals have a normal heartbeat and response to serotonin or norepinephrine is normal.

After 6 days of exposure to continuous room light, norpA7 mutants exhibit a light dependant retinal degeneration phenotype. This is characterised by the phagocytosis of outer R1-R6 photoreceptor cell rhabdomeres by neighbouring cells.

The DHP-sensitive current is reduced. Application of TPA (phorbol 12-myrisatae 13-acetate) and PDD (phorbol 12,13-didecanoate), activators of PKC, rescues the current in mutant fibres without significantly affecting the normal current. 4αPDD (4α-phorbol 12,13-didecanoate), an inactive analog of PDD, does not affect the normal or mutant current. BIM (bisindolylmaleimide), an inhibitor of PKC, reduces the current in normal fibres without affecting the mutant current. DOG (sn-1,2-dioctanoyl-glycarol), analog of diacylglycerol increases the current in the mutant fibres.

The amplitude response to vapours of all odorants tested in the maxillary palp is not significantly different from wild type. The antennal response is also unaffected.

Males have red eyes. Flies are blind.

No difference in PIP2 levels, judged by its immunoreactivity, between light and dark adapted photoreceptors.

norpA7 partially suppresses the arrhythmicity of some homozygous e1 flies.

The major peak of phospholipase C activity seen in wild-type head extracts is missing from homozygous norpA7 head extracts.

Flies are blind. There is no receptor potential, and photoreceptors appear to degenerate relatively late in adult life.

The ocelli of 3 week old flies lack rhabdomeres, and there is an accumulation of debris under the cornea. The somata, projection and synapses of the receptor axons and interneurons appear normal, although occasionally abnormal striations on the soma's plasmalemma are seen.

norpA7 flies lack both the receptor potential and the transient components of the electroretinogram.

very small (<3mV) ERG, even with high intensity stimuli

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
NOT Enhanced by
Statement
Reference

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, non-enhanceable by imd1

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, non-enhanceable by Faddf02804

Suppressed by
Statement
Reference

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, suppressible by DreddB118

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, suppressible by RelE20

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, suppressible by key1

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, suppressible by key4/key1

NOT suppressed by
Statement
Reference

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, non-suppressible by DarkG8

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, non-suppressible by imd1

norpAEE5 has abnormal neuroanatomy | adult stage | progressive | conditional phenotype, non-suppressible by Faddf02804

NOT Suppressor of
Phenotype Manifest In
Enhanced by
Statement
Reference
NOT Enhanced by
Statement
Reference

norpAEE5 has retina | progressive | conditional phenotype, non-enhanceable by imd1

norpAEE5 has retina | progressive | conditional phenotype, non-enhanceable by Faddf02804

Suppressed by
Statement
Reference

norpAEE5 has retina | progressive | conditional phenotype, suppressible by BacA\p35GMR.PH/Scer\GAL4GMR.PU

norpAEE5 has retina | progressive | conditional phenotype, suppressible by DreddB118

norpAEE5 has retina | progressive | conditional phenotype, suppressible by RelE20

norpAEE5 has retina | progressive | conditional phenotype, suppressible by RelE38/RelE20

norpAEE5 has eye phenotype, suppressible by CtsL1llcnbw38

norpAEE5 has eye phenotype, suppressible by CysGMR.PK

norpAEE5 has rhabdomere phenotype, suppressible by CysGMR.PK

norpAEE5 has ommatidium phenotype, suppressible by CysGMR.PK

norpAEE5 has eye phenotype, suppressible by Scer\GAL4GMR.long

norpAEE5 has retina phenotype, suppressible by Arr23KQ/Arr25

norpAEE5 has eye phenotype, suppressible by Arr25

norpAEE5 has retina phenotype, suppressible by Arr25

norpAEE5 has rhabdomere R2 phenotype, suppressible by Arr25

norpAEE5 has rhabdomere R3 phenotype, suppressible by Arr25

norpAEE5 has rhabdomere R4 phenotype, suppressible by Arr25

norpAEE5 has rhabdomere R5 phenotype, suppressible by Arr25

norpAEE5 has rhabdomere R6 phenotype, suppressible by Arr25

norpAEE5 has rhabdomere R1 phenotype, suppressible by Arr25

NOT suppressed by
Statement
Reference

norpAEE5 has retina | progressive | conditional phenotype, non-suppressible by DarkG8

norpAEE5 has retina | progressive | conditional phenotype, non-suppressible by imd1

norpAEE5 has retina | progressive | conditional phenotype, non-suppressible by Faddf02804

norpAEE5 has eye phenotype, non-suppressible by cathD24

norpAEE5 has rhabdomere phenotype, non-suppressible by cathD24

norpAEE5 has ommatidium phenotype, non-suppressible by cathD24

norpAEE5 has rhabdomere R2 phenotype, non-suppressible by shi1

norpAEE5 has rhabdomere R3 phenotype, non-suppressible by ninaEΔ356

norpAEE5 has rhabdomere R3 phenotype, non-suppressible by shi1

norpAEE5 has rhabdomere R4 phenotype, non-suppressible by ninaEΔ356

norpAEE5 has rhabdomere R4 phenotype, non-suppressible by shi1

norpAEE5 has rhabdomere R5 phenotype, non-suppressible by ninaEΔ356

norpAEE5 has rhabdomere R5 phenotype, non-suppressible by shi1

norpAEE5 has rhabdomere R6 phenotype, non-suppressible by ninaEΔ356

norpAEE5 has rhabdomere R6 phenotype, non-suppressible by shi1

norpAEE5 has eye phenotype, non-suppressible by ninaEΔ356

norpAEE5 has eye phenotype, non-suppressible by shi1

norpAEE5 has retina phenotype, non-suppressible by ninaEΔ356

norpAEE5 has retina phenotype, non-suppressible by shi1

norpAEE5 has rhabdomere R1 phenotype, non-suppressible by ninaEΔ356

norpAEE5 has rhabdomere R1 phenotype, non-suppressible by shi1

norpAEE5 has rhabdomere R2 phenotype, non-suppressible by ninaEΔ356

Suppressor of
Statement
Reference

norpAEE5 is a suppressor of eye phenotype of Arr25

norpAEE5 is a suppressor of retina phenotype of Arr25

norpAEE5 is a suppressor of ommatidium phenotype of Arr25

norpAEE5 is a suppressor of phenotype of rdgB1

NOT Suppressor of
Statement
Reference

norpAEE5 is a non-suppressor of retina phenotype of Arr210

Additional Comments
Genetic Interactions
Statement
Reference

A Cp1llcnbw38 mutant background rescues the eye degeneration seen in norpA7 mutants exposed to six days constant light.

A cathD24 background does not suppress the photoreceptor cell death and degeneration seen in norpA7 mutants exposed to six days constant light.

Expression of CysGMR in norpA7 mutants fully rescues the retinal degeneration seen upon exposure to constant light for 6 days. This rescue is robust and provides protection when light exposure is extended to 8 days.

Overexpression of Spn42Daunspecified in the eye under the control of Scer\GAL4GMR.long suppresses retinal degeneration in norpA7 mutants. Ectopic expression of Spn42Daunspecified results in rescue of endocytosis-mediated retinal degeneration resulting in robust rhabdomeres and an ordered array of rhabdomeres.

norpA7 mutants carrying Scer\GAL4GMR.long require five weeks of light ot exhibit complete retinal degeneration due to the presence of screening pigment. Retinal degeneration in a red-eyed background not only takes longer but many rhabdomeres are not completely lost. Instead, there is a shrinking and malformation of the rhabdomeres and a loss of the ordered ommatidial array.

The retinal degeneration seen in norpA7 flies exposed to 4 weeks of constant light is accelerated when Cp1EY05806 is expressed under the control of Scer\GAL4GMR.long.

In α-Adaptin06694,norpA7 double mutant eye clones, from animals raised in the dark and then exposed to 5 days of constant room light, retinal degeneration is rescued and eyes show wild-type morphology.

Arr2K391A completely rescues the retinal degeneration observed in norpA7 mutant eyes from animals raised in the dark and then exposed to 5 days of constant room light.

Arr2R393A completely rescues the retinal degeneration observed in norpA7 mutant eyes from animals raised in the dark and then exposed to 5 days of constant room light.

The absence of light-stimulated change in the membrane potential of retinal photoreceptors in norpA7 flies is not rescued by expressing PldScer\UAS.cLa under the control of Scer\GAL4ninaE.PD.

Expression of PldScer\UAS.cLa under the control of Scer\GAL4ninaE.PD partially suppresses the norpA7 retinal degeneration phenotype.

Retinas from Pldnull), norpA7 double mutant flies raised under continuous light conditions show a much more severe retinal degeneration phenotype than the norpA7 single mutants: at 1 day after eclosion, the double mutants already exhibit advanced degeneration (small rhabdomeres and decreased cell body size), while by 6 days after eclosion, retinal degeneration is extensive with only rhabdomeres R7 and R8 remaining.

norpA7/norpA7 rarely fly, but can be stimulated to by exposure to UV if the flies also carry Rnor\P2rx2Scer\UAS.cLa with Scer\GAL4c17 or Scer\GAL4shakB.lethal.4.1 and have had 40-70 mM DMNPE-ATP(*) microinjected into their CNS.

The loss of the deep pseudopupil seen in norpA7 animals is suppressed by Arr25/Arr23KQ, although the rhabdomeres of these animals reared for 2 weeks in a 12 hour light/12 hour dark cycle do not have normal morphology.

norpA7, Arr25 double mutants completely rescue the degeneration observed in individual mutant and result in an ommatidial structure that closely resembles wild-type. The addition of ninaEΔ356 to norpA7 mutants has no effect on the retinal phenotype. The addition of norpA7 to Arr210 mutants has no effect on the retinal phenotype. The addition of shi1 to norpA7 mutants partially rescued the light dependant retinal degeneration phenotype.

norpA7 rdgB9 double mutants have normal looking R1-6 photoreceptors even after 20 days in constant light at 18oC.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer

Benzer.

Comments
Comments

norpA RNA and protein expression, and phospholipase C activity have been studied in norpA7 flies.

Phospholipase C activation is reduced in norpA7 mutants.

FlyBase curator comment: "norpA7" is stated to be the same as "norpAP24" in FBrf0187818. However, this appears to have been an error (see Frohman, 2007.1.29, personal communication to FlyBase). The allele actually used in FBrf0187818 appears to be "norpA7".

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
References (46)