FB2025_02 , released April 17, 2025
Allele: Hsap\SPASTR388.UAS.Venus
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General Information
Symbol
Hsap\SPASTR388.UAS.Venus
Species
H. sapiens
Name
FlyBase ID
FBal0264224
Feature type
allele
Associated gene
Hsap\SPAST
Associated Insertion(s)
Carried in Construct
P{UAS-SPAST.R388.YFP}
Also Known As
HR388
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.R388.YFP}
Cytology
Description

UAS regulatory sequences drive expression of a mutant form of Hsap\SPAST containing a nucleotide substitution (A1288G) which results in an amino acid replacement (K388R). The construct is tagged with Venus at the 5' end.

(Du et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\SPAST
Tagged with
Venus
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 ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The hereditary spastic paraplegia disease phenotype is examined in spas null (spas5.75) flies. Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus partially rescues the spas5.75 disease phenotype, but less than human spastin wild-type, Hsap\SPASTScer\UAS.T:Avic\GFP-YFP.Venus.

      (Du et al., 2010)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Du et al., 2010)
      SPAST:p.Lys388Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SPAST:p.Lys356Arg
      Associated human disease model(s)
      External database links
      ClinVar: 1442734
      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\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75 homozygotes, although only 75% of flies eclose compared to when two copies of Hsap\SPASTScer\UAS.T:Avic\GFP-YFP.Venus are expressed. The movement defects seen in spas5.75 homozygotes are also partially rescued, with rescue flies still exhibiting mild walking rate, jumping and flying defects. The bouton number phenotype is partially rescued although less efficiently than when two copies of Hsap\SPASTScer\UAS.T:Avic\GFP-YFP.Venus are expressed. Bouton number is reduced significantly compared to spas5.75, but boutons seen are still small and clustered rather than linear. Terminal bouton microtubule distribution is not rescued.

      Expression of Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75 homozygotes. Four times as many flies survive to adulthood as in spas5.75.

      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.

      Co-expression of Hsap\SPASTQ45.Scer\UAS and Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75 homozygotes, although the rescue is less efficient than when Hsap\SPASTQ45.Scer\UAS is expressed alone. The bouton number and terminal bouton microtubule distribution phenotypes are also partially rescued. The number of boutons is slightly less than in spas5.75 and those that are seen are small and clustered.

      (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 (2)
      Reported As
      Symbol Synonym
      Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus
      Hsap\SPASTR388.UAS.Venus
      Name Synonyms
      Secondary FlyBase IDs
        References (3)