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General Information
Symbol
Dmel\Rab81
Species
D. melanogaster
Name
FlyBase ID
FBal0246486
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:

C19870455T

Reported nucleotide change:

C?T

Amino acid change:

S17F | Rab8-PA; S17F | Rab8-PC

Reported amino acid change:

S17F

Comment:

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

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

Nucleotide substitution: C?T.

Amino acid replacement: S17F.

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 ( 1 )
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

Rab81/Df(3L)ED228 spermatocytes show elongated primary axonemes (labelled by CG6652).

Rab81 homozygous clone cells within a mosaic follicular epithelium deposit basement membrane components on both basal and apical extracellular sides, as compared to only on the basal side in controls.

Rab81/Rab82 mutants show pharate lethality.

Rab81/Rab8B229 mutants show pharate lethality.

All the tested trans-heterozygous allelic combinations of Rab81 mutants display synaptic overgrowth, characterized by significant increase in synaptic bouton number of up to 100% relative to wild-type. The synaptic overgrowth is highly penetrant affecting every neuromuscular junction (NMJ) observed including both muscles 6/7 and 4.

In addition to elevated bouton number, Rab81/Rab8B229 mutants also have a significant increase in neuromuscular junction length, branching, and satellite bouton number, with reduction in synaptic bouton size.

Postsynaptic expression of Rab8Scer\UAS.cWa under the control of Scer\GAL4Mhc.PW rescues the increased synaptic bouton number phenotype at muscle 6/7, but not synapse length at neuromuscular junctions in Rab81/Rab8B229 mutants.

Synaptic bouton number or length in muscle 4 is not rescued by muscle expression of Rab8Scer\UAS.cWa.

Rab81/Rab8B229 mutants display a clear reduction in both fast and slow recycling endosomes at both the NMJ and in motor neuron cell bodies in the larval ventral nerve cord. Upon ultrastructural analysis of mutant synapses, accumulation of large endosome-like, intermediary structures within synaptic boutons are observed. The observed structures, however, are dissimilar and unlikely synaptic vesicles as they are not released, because there is no increase in quantal size during electrophysiological analysis. On the contrary, Rab81/Rab8B229 mutants show decreased quantal size compared with wild-type. These structures are similar to autophagosomal intermediates and they are never observed in wild-type animals.

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

Rab81/Rab8B229 has NMJ bouton | third instar larval stage phenotype, suppressible by tkv7/tkv[+]

Enhancer of
Statement
Reference
Other
Additional Comments
Genetic Interactions
Statement
Reference

When present in the genetic background, heterozygous tkv7 reduces the synaptic overgrowth in Rab81/Rab8B229 mutants.

When present in the genetic background, heterozygous tkvk16713 reduces the synaptic overgrowth in Rab81/Rab8B229 mutants.

When present in the genetic background, trans-heterozygous tkv7/tkvk16713 reduces the synaptic overgrowth in Rab81/Rab8B229 mutants.

Although heterozygous Rab81 or DadΔIEL mutants alone do not show any perturbation to synaptic bouton number, their heterozygous combination engenders an increased bouton number compared to wild-type.

Neuronal expression of kayFbz.Scer\UAS under the control of Scer\GAL4RapGAP1-OK6 is sufficient to completely alleviate the synaptic overgrowth in Rab81/Rab8B229 mutants.

Neuronal expression of kayFbz.Scer\UAS under the control of Scer\GAL4nSyb.PS is sufficient to completely alleviate the synaptic overgrowth in Rab81/Rab8B229 mutants.

Heterozygous combinations of pucE69 and Rab81 results in an increase in synaptic bouton number compared with wild-type.

Introducing POSHEP1206 into a Rab81/Rab8B229 mutant background alleviates the synaptic overgrowth phenotype.

Introducing POSHEP2248 into a Rab81/Rab8B229 mutant background alleviates the synaptic overgrowth phenotype.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Expression of Rab8Scer\UAS.cWa under the control of Scer\GAL4Act5C.PI and the presynaptic driver Scer\GAL4nSyb.PS is sufficient to completely rescue the increased bouton number at muscles 6/7 Rab81/Rab81 mutants.

Postsynaptic expression of Rab8Scer\UAS.cWa under the control of Scer\GAL4Mhc.PW rescues the increased synaptic bouton number phenotype at muscle 6/7, but not synapse length at neuromuscular junctions in Rab81/Rab8B229 mutants.

Synaptic bouton number or length in muscle 4 is not rescued by muscle expression of Rab8Scer\UAS.cWa.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer

J. Kennison

Isolated in a screen for lethal mutations that fail to complement Df(3L)kto2.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Name Synonyms
Secondary FlyBase IDs
  • FBal0219685
  • FBal0190659
References (7)