FB2025_01 , released February 20, 2025
Allele: Dmel\MembrinK166del.UAS.Tag:FLAG
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General Information
Symbol
Dmel\MembrinK166del.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0335732
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Carried in construct
Cytology
Description

UAS regulatory sequences drive expression of Membrin with an amino acid deletion (K166del, equivalent to the human K164del deletion mutation associated with progressive myoclonus epilepsy), tagged at the N-terminal with Tag:FLAG.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Comment:

Analogous deletion of K164 in human GOSR2 implicated in epilepsy, progressive myoclonic 6; mutation carried on in vitro construct; deletion coordinates in fly gene inferred by FlyBase curator based on reported deleted amino acid.

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)
 
This allele represents a human variant implicated in disease.
GOSR2:p.Lys164del
Variants Synonym(s)
GOSR2:p.Lys146del
GOSR2:p.Lys163del
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Membrin1524 homozygotes expressing MembrinK166del.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4da.G32 frequently die within the pupal case as fully developed pharate adults; when manually released from the pupal case, these adults appear weak and uncoordinated, as compared to controls. The respective third instar larvae also display a significantly decreased rate of locomotion, as compared to controls. The expression of MembrinK166del.Scer\UAS.T:Zzzz\FLAG alone under the control of either Scer\GAL4da.G32, Scer\GAL4nSyb.PS, Scer\GAL4elav.PU leads to a severe decrease in eclosion compared to controls.

The expression of MembrinK166del.Scer\UAS.T:Zzzz\FLAG alone under the control of Scer\GAL4da.G32 results in larval abdominal ddaC neurons exhibiting a severely reduced dendritic arborization, as shown by the significant decreases in dendritic length, number of terminal dendritic branches and dendritic intersections, but does not lead to any apparent defect in the growth and targeting of ppk-positive neurons (i.e. ddaC, vdaa, and vdaB neurons), as compared to controls.

Third instar larval neuromuscular junction expressing MembrinK166del.Scer\UAS.T:Zzzz\FLAG alone under the control of Scer\GAL4da.G32 exhibit presynaptic cytoskeleton defects, as shown by the fragmented pattern of the cytoskeletal protein Futsch and Ankyrin-2-XL, and exhibit synaptic boutons defects, as shown by significant increases in the numbers of retracted synaptic boutons, elongated synaptic boutons and boutons disconnected from the main axonal branch, but not in the overall bouton number or size, as compared to controls. This neuromuscular junctions also exhibit neurotransmission defects, as shown by a significant decrease in the frequency, but not amplitude or time course, of spontaneous miniature excitatory postsynaptic potentials, by the deformed trains of evoked excitatory postsynaptic potentials, and by the significant increase in the recovery time from electrically induced seizures, as compared to controls.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

The expression of MembrinK166del.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4da.G32 improves the larval lethality of Membrin1524 homozygotes, allowing them to progress until the pharate stage.

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
MembrinK166del.Scer\UAS.T:Zzzz\FLAG
MembrinK166del.UAS.Tag:FLAG
Name Synonyms
Secondary FlyBase IDs
    References (2)