FB2025_01 , released February 20, 2025
Allele: Dmel\atlR192Q.UAS.Tag:MYC
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General Information
Symbol
Dmel\atlR192Q.UAS.Tag:MYC
Species
D. melanogaster
Name
FlyBase ID
FBal0365641
Feature type
allele
Associated gene
Dmel\atl
Associated Insertion(s)
Carried in Construct
P{UAS-atl.R192Q.myc}
Key Links
Transgenic product class
missense_variant
(Montagna et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Montagna et al., 2020)
Mutagen
in vitro construct
(Montagna et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-atl.R192Q.myc}
Cytology
Description

UASt regulatory sequences drive expression of atl carrying a R192Q amino acid substitution; this mutation is equivalent to a R217Q change in the orthologous human ATL1 gene, a pathogenic variant associated with SPG3A (an autosomal dominant form of hereditary spastic paraplegia) and the change has previously been shown to result in a protein that is completely defective in dimerization, GTPase and fusion activities. The coding sequence is tagged with Tag:MYC.

(Montagna et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
atl
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  hereditary spastic paraplegia 3A
      CEA
      (Montagna et al., 2020)
      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.
      (Montagna et al., 2020)
      ATL1:p.Arg217Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 4349
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of atlR192Q.UAS.Tag:MYC under the control of Scer\GAL4Toll-6-D42 leads to over-fusion of endoplasmic reticulum (ER) membranes with the resulting formation of large globular ER structures within the cytoplasm of third instar larval brain neurons when compared to controls.

      (Montagna et al., 2020)
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      atlR192Q.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (3)