FB2025_05 , released December 11, 2025
Allele: Dmel\Chchd2S81L.UAS
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General Information
Symbol
Dmel\Chchd2S81L.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0367622
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Cytology
Description

UASt regulatory sequences drive expression of Chchd2 that carries a S81L amino acid substitution. This change is equivalent to a S59L change in the orthologous human CHCHD10 gene, a pathogenic variant.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 ( 1 )
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
CHCHD10:p.Ser59Leu
Variants Synonym(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression from one copy of Chchd2S81L.UAS under the control of Scer\GAL4GMR.PU induces eye degeneration, with a rough eye and depigmentation as the flies aged. Expression from two copies of Chchd2S81L.UAS leads to more severe eye phenotypes, which are present from eclosion.

The expression from two copies of Chchd2S81L.UAS under the control of Scer\GAL4VGlut-OK371 leads to fewer boutons and branches at the third instar larval neuromuscular junction.

The expression from one copy of Chchd2S81L.UAS under the control of Scer\GAL4Mhc.PW induces a 'held-up' wing phenotype, decreased flight ability and sarcomeric defects in adult indirect flight muscles. The expression from two copies of Chchd2S81L.UAS leads to 45-days-old adults showing indirect flight muscle defects, with mitochondria fragmentation.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
NOT Enhanced by
Statement
Reference
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
Other
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Partially rescued by
Not rescued by
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
Name Synonyms
Secondary FlyBase IDs
    References (2)