FB2024_03 , released June 25, 2024
Allele: Dmel\β-SpecSCA5.UAS.mEos3.2
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General Information
Symbol
Dmel\β-SpecSCA5.UAS.mEos3.2
Species
D. melanogaster
Name
FlyBase ID
FBal0337885
Feature type
allele
Associated gene
Dmel\β-Spec
Associated Insertion(s)
Carried in Construct
P{UAS-mEos3.2-β-Spec.SCA5}
Key Links
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-mEos3.2-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). The protein is tagged at the N-terminal end with mEos3.2.

(Avery et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
β-Spec
Tagged with
mEos3.2
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 ( 0 )
      Disease
      Evidence
      References
      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

      β-Specem21 heterozygotes expressing β-SpecSCA5.Scer\UAS.T:Lhem\EosFP-m3.2 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.mEos3.2 fails to rescue β-Specem21

      (Avery et al., 2017)
      Comments

      The expression of β-SpecSCA5.Scer\UAS.T:Lhem\EosFP-m3.2 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.T:Lhem\EosFP-m3.2
      β-SpecSCA5.UAS.mEos3.2
      Name Synonyms
      Secondary FlyBase IDs
        References (2)