FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Chchd2S81L.UAS.PA.Tag:V5
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General Information
Symbol
Dmel\Chchd2S81L.UAS.PA.Tag:V5
Species
D. melanogaster
Name
FlyBase ID
FBal0361018
Feature type
allele
Associated gene
Dmel\Chchd2
Associated Insertion(s)
Carried in Construct
P{UAS-Chchd2.PA.S81L.V5}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Liu et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Liu et al., 2020)
Mutagen
in vitro construct
(Liu et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-Chchd2.PA.S81L.V5}
Cytology
Description

UASt regulatory sequences drive expression of a cDNA encoding the Chchd2-PA isoform, mutated to carry a S81L amino acid replacement (this change is equivalent to a S59L change in the human CHCHD10 gene, a pathogenic variant associated with frontotemporal lobar degeneration and amyotrophic lateral sclerosis). The coding sequence is tagged at the C-terminal end with Tag:V5.

(Liu et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Chchd2
Tagged with
Tag:V5
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:17,150,028..17,150,028 [+]
Nucleotide change:

C17150028T

Amino acid change:

S81L | Chchd2-PA; S33L | Chchd2-PB

Reported amino acid change:

S81L

Comment:

Analogous S59L mutation in human CHCHD10 implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Liu 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 )
      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.
      (Liu et al., 2020)
      CHCHD10:p.Ser59Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 140745
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Chchd2S81L.UAS.PA.Tag:V5 under the control of Scer\GAL4da.G32 leads to adult flight muscle mitochondria to progressively show a swirl morphology or less cristae (observed at day 30 but not at day 2).

      (Liu 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
      Partially rescued by

      Chchd2S81L.UAS.PA.Tag:V5 is partially rescued by Scer\GAL4da.G32/Chchd2UAS.PA.Tag:V5

      (Liu et al., 2020)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Chchd2S81L.UAS.PA.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)