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General Information
Symbol
Dmel\Spt-IC129W.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0317111
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:
C13169289G
Amino acid change:
C129W | Spt-I-PB; C129W | Spt-I-PC; C129W | Spt-I-PA
Reported amino acid change:
C129W
Comment:
Analogous mutation in human SPTLC1 implicated in neuropathy, hereditary sensory and autonomic, type IA; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference
UASt regulatory sequences drive expression of a C129W mutant Spt-I cDNA derived from RE58623. Amino acid position 129 in Spt-I is analogous to position 133 in the homologous human protein.
Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
When Spt-IC129W.Scer\UAS is expressed with Scer\GAL4ppk.PG, transgenic animals show defective nociception response. The expression of Spt-IC129W.Scer\UAS significantly increases the nociceptive response temperature compared with wild-type. Pan-neuronal (Scer\GAL4elav.PU) expression of Spt-IC129W.Scer\UAS results in no change in synaptic bouton number at larval muscle 6/7, hemisegment A3 neuromuscular junction compared with wild-type. In the presence of Scer\GAL4αTub84B.PL>Spt-IC129W.Scer\UAS, enrichment of alanine in the larval diet is toxic and can be alleviated by increasing serine dietary abundance. Expression of Spt-IC129W.Scer\UAS using Scer\GAL4ppk.PG results in secretory and membrane dysfunction in sensory neurons. Expression of Spt-IC129W.Scer\UAS using Scer\GAL4ppk.PG produces subtle, yet statistically significant reduction in dendrite arborization compared with wild-type.
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Introduction of heterozygous Spt-ISH1626 in the presence of Spt-IC129W.Scer\UAS and the pan-neuronal driver Scer\GAL4elav.PU induces a 50% reduction of bouton numbers compared with wild-type. Introduction of heterozygous lacek05305 in the presence of Spt-IC129W.Scer\UAS and the pan-neuronal driver Scer\GAL4elav.PU induces a 50% reduction of bouton numbers compared with wild-type. Co-expression of Rab1Q70L.Scer\UAS.P\T.T:Avic\GFP-YFP completely restores the nociceptive defect observed with Spt-IC129W.Scer\UAS expression using Scer\GAL4ppk.PG.
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
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
Spt-IC129W.Scer\UAS
Spt-IC129W.UAS
Name Synonyms
Secondary FlyBase IDs
    References (1)