FB2025_01 , released February 20, 2025
Allele: Dmel\sicilyE
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General Information
Symbol
Dmel\sicilyE
Species
D. melanogaster
Name
FlyBase ID
FBal0284113
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

Amino acid replacement: Q133term.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

C11892829T

Amino acid change:

Q133term | sicily-PA; Q133term | sicily-PB

Reported amino acid change:

Q133term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

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 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Whole-eye sicilyE mutant clones in adult flies exhibit severe lipid droplet accumulations in glial cells and photoreceptor neurodegeneration.

sicilyE mutants exhibit abundant lipid droplet accumulations in pigment and epithelial glia. In addition to the retina, lipid droplets also accumulate in the epithelial glia of the lamina.

sicilyE mutant visual system clones (generated with hidGMR.PG) exhibit lipid droplet accumulation in the glia.

The morphology of sicilyE mutant photoreceptors is mostly normal or only mildly affected at day 1. They begin to degenerate several days after eclosion, with elongated or diffuse rhabdomeres. One-day old sicilyE clones exhibit approximately 10 lipid droplets per ommatidium. Upon aging, these clones display a significant decrease in the number of lipid droplets.

Mutant flies containing homozygous eyes (generated using the eyFLP method) show degenerative electroretinogram (ERG) defects which worsen with age. The amplitude of the ERG is reduced in 1 day old flies and is almost completely abolished after 24 days. Ommatidia contain the normal number of rhabdomeres and have a normal trapezoidal organisation in newly eclosed flies containing homozygous eyes. However, the pigment cells are vastly expanded and have highly aberrant morphology. Some rhabdomeres are missing in 10 day old flies, and many photoreceptors appear rough and/or vacuolated. At 24 days, the rhabdomeres are barely recognisable or are missing. Mitochondria are enlarged in the retinas of newly eclosed flies, by day 10, the mutant mitochondria are swollen and vacuolated with dissociated cristae and by day 24 they are barely recognisable.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference
Phenotype Manifest In
Suppressed by
Statement
Reference

sicilyE has lipid droplet | somatic clone | adult stage phenotype, suppressible | partially by SlnD1/Sln[+]

sicilyE has photoreceptor | somatic clone | adult stage | progressive phenotype, suppressible by SlnD1/Sln[+]

sicilyE has photoreceptor | somatic clone | adult stage | progressive phenotype, suppressible by NLaz[+]/NLazNW5

Additional Comments
Genetic Interactions
Statement
Reference

Expression of any of the following: SlnGD1940, SlnKK104306, outGD3448, outKK104187, FatpKK104809, FatpHMC03111, FatpHMC03960 FatpHMC04206, GLazGD4806 or GLazKK106377 in the ey>flip whole-eye clones mutant for sicilyE ameliorates the lipid droplet accumulation in retinal glial cells in adult flies and also improves the photoreceptor degeneration phenotype. Significant amelioration of both phenotypes is also observed upon combination with one copy of either SlnD1 or BsgSH1217 and the neurodegeneration phenotype is improved also by Fatpk10307 or NLazNW5 heterozygosity.

A bsk1 heterozygous background is sufficient to ameliorate the lipid droplet accumulation displayed in sicilyE mutants.

A SREBP189 heterozygous background is sufficient to ameliorate the lipid droplet accumulation displayed in sicilyE mutants.

Visual system knockdown of bsk, through expression of bskGD10555 under the control of Scer\GAL4ey.PH in a sicilyEmutant background significantly reduces lipid droplet accumulation.

Expression of Lip4Scer\UAS.cLa in sicilyE mutant clones partially restores the shape, density and number of identifiable rhabdomeres, indicating that reducing lipid droplet accumulation partially alleviates neurodegeneration.

Expression of bmmScer\UAS.cGa in sicilyE mutant clones partially restores the shape, density and number of identifiable rhabdomeres, indicating that reducing lipid droplet accumulation partially alleviates neurodegeneration.

Xenogenetic Interactions
Statement
Reference

Expression of Hsap\SOD1Scer\UAS.cPa under the control of Scer\GAL4da.G32 in sicilyE mutant larvae reduces the overall level of reactive oxygen species and considerably suppresses the lipid droplet accumulation seen in these flies.

Expression of Hsap\NDUFAF6Scer\UAS.cZa under the control of Scer\GAL4da.G32 rescues the lethality and progressive electroretinogram caused by sicilyE.

Complementation and Rescue Data
Fails to complement
Partially rescued by
Comments

sicily+tgRes rescues the progressive degenerative defects seen in flies containing homozygous sicilyE eyes (generated using the eyFLP method).

sicilyT:Disc\RFP-mCherry rescues the lethality and electroretinogram defects of sicilyE.

Expression of sicily-MTS.Scer\UAS under the control of Scer\GAL4da.G32 rescues the lethality of sicilyE animals. The rescued animals show subtle defects: a partial loss of the 'off' transient in the electroretinogram, enlarged mitochondria at day 1 and some loss of photoreceptors at day 10.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (4)