FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\SPASTL44.UAS.CFP
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General Information
Symbol
Hsap\SPASTL44.UAS.CFP
Species
H. sapiens
Name
FlyBase ID
FBal0264225
Feature type
allele
Associated gene
Hsap\SPAST
Associated Insertion(s)
Carried in Construct
P{UAS-SPAST.L44.CFP}
Also Known As
HL44
Key Links
Transgenic product class
missense_variant
(Du et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Du et al., 2010)
Mutagen
in vitro construct
(Du et al., 2010)
Progenitor genotype
Carried in construct
P{UAS-SPAST.L44.CFP}
Cytology
Description

UAS regulatory sequences drive expression of a mutant form of Hsap\SPAST containing a nucleotide substitution (C256T) which results in an amino acid replacement (S44L). The construct is tagged with CFP at the 5' end.

(Du et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\SPAST
Tagged with
CFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      exacerbates  hereditary spastic paraplegia
      modeled by Hsap\SPASTR388.UAS.Venus, spas5.75
      (Du et al., 2010)
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Hsap\SPASTL44.Scer\UAS.T:Avic\GFP-CFP models a silent human polymorphism that when in combination with a hereditary spastic paraplegia-causing mutation such as K388R, as modelled by Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus), causes earlier onset and increased severity of the disease. The disease phenotype is examined in spas null (spas5.75) flies.

      (Du et al., 2010)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Du et al., 2010)
      SPAST:p.Ser44Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPAST_5671
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies expressing one copy each of Hsap\SPASTL44.Scer\UAS.T:Avic\GFP-CFP and Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4elav.Switch.PO (in a spas5.75 mutant background) eclose at a higher rate when the pupae are exposed to cold treatment (18[o]C) compared to pupae kept at 24[o]C.

      (Baxter et al., 2014)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Co-expression of Hsap\SPASTScer\UAS.T:Avic\GFP-YFP.Venus and Hsap\SPASTL44.Scer\UAS.T:Avic\GFP-CFP under the control of Scer\GAL4elav.Switch.PO restores the eclosion and movement defects seen in spas5.75 homozygotes to a similar level as when two copies of Hsap\SPASTScer\UAS.T:Avic\GFP-YFP.Venus are expressed. The spas5.75 increased bouton number phenotype is partially rescued, although bouton number is slightly higher than when Hsap\SPASTScer\UAS.T:Avic\GFP-YFP.Venus is expressed alone. Terminal bouton microtubule distribution is also partially rescued. Flies of this genotype have an average lifespan of approximately 16 days.

      Expression of Hsap\SPASTL44.Scer\UAS.T:Avic\GFP-CFP under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75 homozygotes.

      Co-expression of Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus and Hsap\SPASTL44.Scer\UAS.T:Avic\GFP-CFP under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75, but fails to rescue the movement defects. Neither the increase in bouton number nor the terminal bouton microtubule distribution phenotype seen in spas5.75 is rescued. Flies of this genotype have a severely reduced lifespan of approximately 4 days.

      (Du et al., 2010)
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\SPASTL44.Scer\UAS.T:Avic\GFP-CFP
      Hsap\SPASTL44.UAS.CFP
      Hsap\SPASTL44.UAS.T:Avic\GFP-CFP
      Name Synonyms
      Secondary FlyBase IDs
        References (3)