FlyBase Allele Report: Dmel\Pect[omb593]

General Information

Symbol

Dmel\Pect^omb593

Species

D. melanogaster

Name

FlyBase ID

FBal0347225

Feature type

allele

Associated gene

Dmel\Pect

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Tsai et al., 2019)

Progenitor genotype

Cytology

Description

Amino acid replacement: H55Y.

(Tsai et al., 2019)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:13,208,189..13,208,189 [+]

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.

(Tsai et al., 2019)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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, Pect^omb593 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, Pect^omb593 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, Pect^omb593 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.

(Tsai et al., 2019)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference