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General Information
Symbol
Dmel\spartin1
Species
D. melanogaster
Name
FlyBase ID
FBal0284233
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Imprecise excision of the progenitor insertion resulting in a 1957bp deletion that removes the 5' part of spartin.

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 ( 1 )
Disease
Interaction
References
model of  Troyer syndrome
is ameliorated by futschK68
is exacerbated by Eps-15e75
is exacerbated by futschEP1419
is ameliorated by witA12
is exacerbated by Fmr1Δ50M
is ameliorated by DadUAS.cTa
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Homozygous and spartin1/Df(3R)110 third instar larvae show clear overgrowth of the neuromuscular junction. Bouton number and satellite bouton number are increased by approximately 40% and 90% respectively compared to controls.

The mean amplitude of the evoked excitatory junction current (EJC) is consistently decreased compared to wild type at the homozygous and spartin1/Df(3R)110 third larval instar neuromuscular junction.

The mean amplitude of spontaneous mEJCs is not altered compared to wild type in mutant third instar larvae. mEJC frequency is reduced compared to wild type in homozygous third instar larvae.

The neuromuscular junctions of spartin1/Df(3R)110 third instar larvae show impaired FM1-43FX dye uptake compared to wild type, indicating a defect in synaptic vesicle endocytosis.

20 day old spartin1/Df(3R)110 adults show significantly reduced climbing ability compared to wild-type controls.

spartin1/Df(3R)110 adults show age-dependent neurodegeneration.

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

spartin1/Df(3R)110 is a suppressor of adult brain phenotype of futschK68

Other
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

Eps-15e75/+ ; spartin1/+ double heterozygotes show impaired FM1-43FX dye uptake at the neuromuscular junction compared to wild type.

witA12/+ suppresses the increase in bouton number and satellite bouton number seen at the neuromuscular junction in spartin1/Df(3R)110 third instar larvae.

witA12 spartin1/witB11 Df(3R)110 double mutant larvae show a significant decrease in bouton number and satellite bouton number at the neuromuscular junction compared to controls, as occurs in witA12/witB11 single mutant larvae.

Fmr1Δ50M spartin1 double heterozygous third instar larvae show an increase in bouton number and satellite bouton number at the neuromuscular junction compared to controls.

witA12/+ strongly suppresses the brain vacuolisation seen in 20 day old spartin1/Df(3R)110 adults.

The brain vacuolisation seen in 20 day old spartin1/Df(3R)110 and futschK68/+ adults is suppressed in futschK68/+ ; spartin1/Df(3R)110 double mutant flies.

Expression of futschEP1419 under the control of Scer\GAL4elav-C155 in a spartin1/Df(3R)110 background enhances the number of vacuoles in the brain of 20 day old flies compared to either single mutant.

Xenogenetic Interactions
Statement
Reference

Expression of Hsap\SPG20Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4elav-C155 rescues the increase in bouton number and satellite bouton number seen at the neuromuscular junction in spartin1/Df(3R)110 third instar larvae.

Expression of Hsap\SPG20Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4elav-C155 rescues the show age-dependent neurodegeneration seen in spartin1/Df(3R)110 adults.

Complementation and Rescue Data
Comments

Expression of spartinScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4elav-C155 rescues the increase in bouton number and satellite bouton number and the decrease in the amplitude of the evoked excitatory junction current seen at the neuromuscular junction in spartin1/Df(3R)110 third instar larvae. Expression under the control of Scer\GAL4C57 does not rescue these phenotypes.

Expression of spartinScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4elav-C155 rescues the impaired FM1-43FX dye uptake seen in the neuromuscular junctions of spartin1/Df(3R)110 third instar larvae.

Expression of spartinScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4elav-C155 fails to rescue the increase in bouton number and satellite bouton number and the impaired FM1-43FX dye uptake seen at the neuromuscular junction in spartin1/Df(3R)110 third instar larvae.

Expression of spartinScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4elav-C155 rescues the reduced climbing ability of 20 day old spartin1/Df(3R)110 adults.

Expression of spartinScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4elav-C155 rescues the show age-dependent neurodegeneration seen in spartin1/Df(3R)110 adults.

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