FB2026_02 , released June 18, 2026
Allele: Dmel\Spt-IC129W.UAS
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General Information
Symbol
Dmel\Spt-IC129W.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0317111
Feature type
allele
Associated gene
Dmel\Spt-I
Associated Insertion(s)
Carried in Construct
P{UAS-Spt-I.C129W}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Oswald et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Oswald et al., 2015)
Mutagen
in vitro construct
(Oswald et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-Spt-I.C129W}
Cytology
Description

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.

(Oswald et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Spt-I
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:13,169,289..13,169,289 [+]
Nucleotide change:

C13169289G

Amino acid change:

C129W | Spt-I-PA; C129W | Spt-I-PB; C129W | Spt-I-PC

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.

(Oswald et al., 2015)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      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
      model of  hereditary sensory neuropathy
      CEA
      (Oswald et al., 2015)
      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.
      (Oswald et al., 2015)
      SPTLC1:p.Cys133Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPTLC1_4803
      Comments concerning this variant
      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.

      (Oswald et al., 2015)
      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.

      (Oswald et al., 2015)
      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 (2)