FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\β-SpecAM.UAS
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General Information
Symbol
Dmel\β-SpecAM.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0265238
Feature type
allele
Associated gene
Dmel\β-Spec
Associated Insertion(s)
Carried in Construct
P{UAS-β-Spec.AM}
Key Links
Genomic Maps

Transgenic product class
inframe_deletion
(Lorenzo et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Lorenzo et al., 2010)
Mutagen
in vitro construct
(Lorenzo et al., 2010)
Progenitor genotype
Carried in construct
P{UAS-β-Spec.AM}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of β-Spec containing a 39bp deletion in the region of homology with the deletion mutation found in Hsap\SPTBN2AM.UASp.Tag:MYC.

(Lorenzo et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
β-Spec
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
X:17,662,756..17,662,794 [+]
Comment:

Analogous to "American 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.

(Lorenzo et al., 2010)
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
      (Lorenzo et al., 2010)
      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.
      (Lorenzo et al., 2010)
      SPTBN2:p.Glu532_Met544del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPTBN2_5273
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of β-SpecAM.Scer\UAS under the control of Scer\GAL4GMR.PF produces strong degenerative eye phenotypes.

      Expression of β-SpecAM.Scer\UAS under the control of Scer\GAL4elav.PU results in a reduced bouton number per muscle area in neuromuscular junctions on ventral longitudinal muscles 6/7 of larval abdominal segments 2 and 3. Third instar larvae also exhibit a "tail-flip" crawling phenotype due to paralysis of the posterior segments of the body.

      Axonal swellings are also observed (visualised by accumulation of Syt1), and vesicle movement is disrupted in segmental axons, with vesicles exhibiting frequent reversals in the direction of transport and travelling for much shorter distances in any one direction compared to controls. Synaptic vesicles travel significantly more slowly than control vesicles in both directions when one copy of β-SpecAM.Scer\UAS is expressed in motor neurons under the control of Scer\GAL4D42.

      (Lorenzo et al., 2010)
      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
      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
      β-SpecAM.Scer\UAS
      β-SpecAM.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)