FB2024_03 , released June 25, 2024
Allele: Dmel\daR564H.UAS
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General Information
Symbol
Dmel\daR564H.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0318116
Feature type
allele
Associated gene
Dmel\da
Associated Insertion(s)
Carried in Construct
P{UAS-da.R564H}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Tamberg et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Tamberg et al., 2015)
Mutagen
in vitro construct
(Tamberg et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-da.R564H}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of da (R564H), which is analogous to the R578H mutation seen in Pitt-Hopkins syndrome (PTHS) in humans.

(Tamberg et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
da
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:10,391,752..10,391,752 [+]
Nucleotide change:

G10391752A

Amino acid change:

R564H | da-PA; R564H | da-PB; R564H | da-PC; R564H | da-PD

Reported amino acid change:

R564H

Comment:

Analogous mutation in human TCF4 implicated in Pitt-Hopkins syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Tamberg et al., 2015)
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  Pitt-Hopkins syndrome
      CEA
      (Tamberg et al., 2015)
      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.
      (Tamberg et al., 2015)
      TCF4:p.Arg574His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TCF4:p.Arg578His
      Associated human disease model(s)
      External database links
      ClinVar: TCF4_93542
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of daR564H.Scer\UAS under the control of Scer\GAL4pnr.PU results in no major defects on the thorax, but on occasion formation of some ectopic bristles is observed.

      Expression of daR564H.Scer\UAS under the control of two copies of Scer\GAL4GMR12B08 results in a rough eye phenotype.

      Constitutive expression of daR564H.Scer\UAS under the control of Scer\GAL4da.G32 leads to embryo lethality. This expression limited to the adult stages (using Scer\GAL80ts.αTub84B) results in lethality in 10-11 days.

      (Tamberg et al., 2015)
      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

      Expression of daR564H.Scer\UAS under the control of Scer\GAL4da.G32 rescues the neuronal phenotypes seen in homozygous da10 mutant embryos.

      (Tamberg et al., 2015)
      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
      daR564H.Scer\UAS
      daR564H.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)