FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\β-SpecSCA5.UAS
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General Information
Symbol
Dmel\β-SpecSCA5.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0337883
Feature type
allele
Associated gene
Dmel\β-Spec
Associated Insertion(s)
Carried in Construct
P{UAS-β-Spec.SCA5}
Also Known As
UAS-βspecSCA5
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Avery et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Avery et al., 2017)
Mutagen
in vitro construct
(Avery et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-β-Spec.SCA5}
Cytology
Description

UAS regulatory sequences drive expression of a mutant form of β-Spec which carries the amino acid replacement L246P (this mutation is equivalent to the spinocerebellar ataxia type 5 disease-associated L253P variant of the human SPTBN2 ortholog).

(Avery et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
β-Spec
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:17,661,920..17,661,920 [+]
Nucleotide change:

T17661920C

Amino acid change:

L246P | beta-Spec-PA; L246P | beta-Spec-PB; L246P | beta-Spec-PC

Comment:

Analogous L253P mutation in human SPTBN2 implicated in spinocerebellar ataxia 5; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Avery et al., 2017)
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  spinocerebellar ataxia 5
      CEA
      (Denha et al., 2022, Avery et al., 2017)
      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.
      (Avery et al., 2017)
      SPTBN2:p.Leu253Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPTBN2_5275
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of β-SpecSCA5.Scer\UAS under the control of Scer\GAL4477 leads to third instar larval class IV da neurons showing a severe reduction in dendritic arborization size, with a complete loss of distal dendrites near segmental boundaries, with significant decreases in distal dendritic branch complexity, total dendritic branch length and number of dendritic branch points, as compared to controls; however, high-complexity terminal branching is still present near the ends of primary dendrites where complex terminal branching is observed in control neurons. These aforementioned defects are not observed at the early second instar larval stage.

      β-Specem21 heterozygotes expressing β-SpecSCA5.Scer\UAS under the control of Scer\GAL4elav.PU are near lethal.

      (Avery et al., 2017)
      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
      Complementation and Rescue Data
      Fails to rescue

      Scer\GAL4elav.PU/β-SpecSCA5.UAS fails to rescue β-Specem21

      (Avery et al., 2017)
      Comments

      The expression of β-SpecSCA5.Scer\UAS under the control of Scer\GAL4elav.PU fails to rescue the lethality of β-Specem21 hemizygotes.

      (Avery et al., 2017)
      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
      β-SpecSCA5.Scer\UAS
      β-SpecSCA5.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)