FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\atlR214C
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General Information
Symbol
Dmel\atlR214C
Species
D. melanogaster
Name
FlyBase ID
FBal0365646
Feature type
allele
Associated gene
Dmel\atl
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

hypomorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - genetic evidence

(Montagna et al., 2020)
Mutagen
CRISPR/Cas9
(Montagna et al., 2020)
Progenitor genotype
Cytology
Description

A R214C amino acid substitution has been introduced into the endogenous atl locus; this mutation is equivalent to a R239C change in the orthologous human ATL1 gene, a pathogenic variant associated with SPG3A (an autosomal dominant form of hereditary spastic paraplegia).

(Montagna et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:24,632,601..24,632,601 [+]
Nucleotide change:

C24632601T

Reported nucleotide change:

C>T

Amino acid change:

R214C | atl-PA; R214C | atl-PB; R214C | atl-PC

Reported amino acid change:

R214C

Comment:

Analogous R239C mutation in human ATL1 implicated in spastic paraplegia 3A.

(Montagna et al., 2020)
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.Arg239Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 4346
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Homozygous atlR214C third instar larval brains exhibit longer endoplasmic reticulum (ER) profiles when compared to controls. Also the morphology of individual Golgi stacks looks altered, as dilated ER or Golgi cisternae are present, as well as double- or multi-membrane autophagosomes.

      (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 (2)
      Reported As
      Symbol Synonym
      CRISPR-R214C
      (Montagna et al., 2020)
      atlR214C
      Name Synonyms
      Secondary FlyBase IDs
        References (2)