FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\ITM2BADan.UAS.Tag:SS(nec)
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General Information
Symbol
Hsap\ITM2BADan.UAS.Tag:SS(nec)
Species
H. sapiens
Name
FlyBase ID
FBal0295725
Feature type
allele
Associated gene
Hsap\ITM2B
Associated Insertion(s)
Carried in Construct
M{UAS-hITM2B.ADan}
Key Links
Transgenic product class
Mutagen
Nature of the Allele
Transgenic product class
Mutagen
in vitro construct
(Marcora et al., 2014)
Progenitor genotype
Carried in construct
M{UAS-hITM2B.ADan}
Cytology
Description

UASt regulatory sequences drive expression of the 34-residue 'ADan' peptide that is produced in patients with familial Danish dementia as a result of processing of a mutated Hsap\ITM2B protein. The peptide is tagged at the N-terminal with the Tag:SS(nec) signal peptide.

(Marcora et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\ITM2B
Tagged with
Tag:SS(nec)
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  amyloidosis
      CEA
      (Marcora et al., 2014)
      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.
      (Marcora et al., 2014)
      ITM2B:p.Ser266fs
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ITM2B:p.Ser266Phefs
      ITM2B:p.Ser266, frameshift
      Associated human disease model(s)
      External database links
      ClinVar: ITM2B_5980
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of one or two copies of Hsap\ITM2BADan.Scer\UAS.T:SS-nec in the eye, under the control of Scer\GAL4GMR.PF does not result in any toxic effects at 25[o]C.

      Expression of Hsap\ITM2BADan.Scer\UAS.T:SS-nec under the control of Scer\GAL4GMR.PF results in a few scattered ommatidia of different sizes, with a lower number of interommatidial bristles than in wild-type. In addition, there is a significant loss of ommatidia in these flies, compared to controls.

      Pan-neural expression of Hsap\ITM2BADan.Scer\UAS.T:SS-nec under the control of Scer\GAL4elav.PU does not lead to any climbing defects. However, expression of two copies of Hsap\ITM2BADan.Scer\UAS.T:SS-nec at 28[o]C results in a significant impairment in climbing ability that worsens with age. After 25 days, these flies also exhibit significant defects in phototaxis.

      (Marcora 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
      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\ITM2BADan.Scer\UAS.T:SS-nec
      Hsap\ITM2BADan.UAS.Tag:SS(nec)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)