FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\SPTBN2GM.UASp.Tag:MYC
Open Close
General Information
Symbol
Hsap\SPTBN2GM.UASp.Tag:MYC
Species
H. sapiens
Name
FlyBase ID
FBal0265236
Feature type
allele
Associated gene
Hsap\SPTBN2
Associated Insertion(s)
Carried in Construct
P{UASp-SPTBN2.GM.MYC}
Key Links
Transgenic product class
missense_variant
(Lorenzo et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Lorenzo et al., 2010)
Mutagen
in vitro construct
(Lorenzo et al., 2010)
Progenitor genotype
Hsap\SPTBN2UASp.Tag:MYC
(Lorenzo et al., 2010)
Carried in construct
P{UASp-SPTBN2.GM.MYC}
Cytology
Description

UASp regulatory sequences drive expression of a mutant form of Hsap\SPTBN2 in which the leucine at residue 253 has been replaced by a proline. The construct is tagged with Tag:MYC.

(Lorenzo et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
Hsap\SPTBN2
Tagged with
Tag:MYC
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 )
      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.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

      Expression of one copy of Hsap\SPTBN2GM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4GMR.PF results in a mild rough eye phenotype. 10 day old flies show a severe disruption of the retinal organisation, with thinning of the retina and loss of retinal neurons. The extent of the neurodegeneration in the eye becomes more severe as flies age. Eye pigmentation abnormalities are seen by day 30. A stronger phenotype is seen when two copies of the transgene are expressed.

      Third instar larvae expressing Hsap\SPTBN2GM.Scer\UAS.P\T.T:Hsap\MYC under the control of Scer\GAL4elav.PU do not show a reduced bouton number at the neuromuscular junction per muscle area compared to controls. No crawling defects are observed in these larvae.

      (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
      Hsap\SPTBN2GM.Scer\UAS.P\T.T:Hsap\MYC
      Hsap\SPTBN2GM.UASp.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)