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General Information
Symbol
Dmel\Pectomb593
Species
D. melanogaster
Name
FlyBase ID
FBal0347225
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C13208189T

Amino acid change:

H55Y | Pect-PB; H55Y | Pect-PC; H55Y | Pect-PD; H55Y | Pect-PE

Reported amino acid change:

H55Y

Comment:

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

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: H55Y.

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 ( 0 )
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

At eclosion, Pectomb593 mutant photoreceptor cells in mosaic individuals show normal axon terminal morphology, as well as normal cell body morphology and arrangement in the retina; over the first 5 days of adult life, however, signs of cell body and axon terminal degeneration start to show, as axon terminals develop irregular, swollen morphologies, optic cartridges become incomplete and synaptic vesicles are reduced (CSP staining as proxy). All defects except the reduced synaptic vesicles are nearly absent when individuals are reared in the dark.

At 8h post eclosion, Pectomb593 mutant photoreceptor cells show normal cartridge organization, with only a modest increase in the variance in the number of R1-R6 photoreceptor terminals relative to controls; within each cartridge, the number of presynaptic release sites at T-bar ribbons is the same as in controls. Although individual photoreceptor axon terminals show normal size, they show fewer synaptic vesicles that are evenly spaced and distributed in small clusters, they show a severe increase in the number of dense-core vesicles, and show an increase in the number of shallow profiles of capitate projection organelles.

At 5 days of age, Pectomb593 mutant R1-R6 photoreceptor cell clones show signs of severe cell body and axon terminal degeneration, including electron-dense cytoplasm, loss of vesicles, capitate projections and synaptic T-bar ribbons; there is also the presence of endoplasmic reticulum-like structures. The retinas of 5-day-old adults also undergo degeneration, displaying both electron-dense cytoplasm and loss of rhabdomere structure.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference
NOT suppressed by
Phenotype Manifest In
Suppressed by
NOT suppressed by
Statement
Reference

Pectomb593 has axon | somatic clone | adult stage | progressive | conditional phenotype, non-suppressible by SREBP[+]/SREBP189

Pectomb593 has eye photoreceptor cell | somatic clone | adult stage | progressive | conditional phenotype, non-suppressible by SREBP[+]/SREBP189

Pectomb593 has optic cartridge | somatic clone | adult stage | progressive | conditional phenotype, non-suppressible by SREBP[+]/SREBP189

Pectomb593 has axon | somatic clone | adult stage | progressive | conditional phenotype, non-suppressible by S1PGD5552/Scer\GAL4GMR.PFa

Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Pectomb593
pectomb593
Name Synonyms
Secondary FlyBase IDs
    References (1)