FB2024_03 , released June 25, 2024
Allele: Dmel\SkpAGD65
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General Information
Symbol
Dmel\SkpAGD65
Species
D. melanogaster
Name
FlyBase ID
FBal0297325
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: E?K.

Nucleotide substitution: G94A.

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

G657203A

Reported nucleotide change:

G94A

Amino acid change:

E32K | SkpA-PA; E32K | SkpA-PB; E32K | SkpA-PC; E32K | SkpA-PD; E32K | SkpA-PE; E32K | SkpA-PF; E32K | SkpA-PG; E32K | SkpA-PH; E32K | SkpA-PI

Reported amino acid change:

E?K

Comment:

The mutation is reported to be a change from G to A at base 94. Assiming that refers to base 94 of of the CDS, it was mapped to codon E32.

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 ( 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

Homozygous larvae derived from homozygous females show a significant increase in the number of boutons and number of synaptic branches at the neuromuscular junction compared to wild type, while the size of the boutons is significantly reduced. Heterozygous larvae derived from homozygous females also show a significant increase in the number of boutons at the neuromuscular junction compared to wild type, although this overgrowth phenotype is less severe than that seen for homozygous larvae derived from homozygous females.

Mutant larvae show a decrease in axonal degeneration after crush injury compared to wild type.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Suppressed by
Enhancer of
Statement
Reference
Suppressor of
Additional Comments
Genetic Interactions
Statement
Reference

The synaptic overgrowth phenotype (increase in bouton number) seen at the neuromuscular junction in hiwND51 mutants is dramatically enhanced in hiwND51 SkpAGD65 double mutants.

hiwND51 SkpAGD65 double mutant larvae show a decrease in excitatory junctional potential amplitude and in quantal content compared to wild type.

The synaptic overgrowth phenotype (increase in bouton number) seen at the neuromuscular junction in larvae derived from homozygous SkpAGD65 females is significantly (but not completely) suppressed by wnd1/wnd2.

The synaptic overgrowth phenotype (increase in bouton number) seen at the neuromuscular junction in larvae derived from homozygous SkpAGD65 females is partially suppressed by expression of one of either JraJbz.Scer\UAS, kayFbz.Scer\UAS or bskK53R.Scer\UAS under the control of Scer\GAL4elav.PU.

The synaptic retraction phenotype seen at the neuromuscular junction in larvae expressing α-SpecKK101541 under the control of Scer\GAL4elav.PU is suppressed by SkpAGD65.

The reduced axonal degeneration seen in SkpAGD65 larvae compared to controls after crush injury is suppressed by expression of NmnatJF03337 under the control of Scer\GAL4tey-5053A.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

The neuromuscular junction overgrowth phenotype (increase in number of boutons) seen in larvae derived from SkpAGD65/SkpA1 females is completely rescued by expression of SkpAScer\UAS.T:Zzzz\FLAG,T:Ivir\HA1 under the control of Scer\GAL4elav.PU, while expression under the control of Scer\GAL4G7 does not rescue the phenotype.

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