FB2025_01 , released February 20, 2025
Allele: Hsap\CHCHD10S59L.UAS
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General Information
Symbol
Hsap\CHCHD10S59L.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0367626
Feature type
allele
Associated gene
Hsap\CHCHD10
Associated Insertion(s)
Carried in Construct
P{UAS-hCHCHD10.S59L}
Key Links
Transgenic product class
missense_variant
(Baek et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Baek et al., 2021)
Mutagen
in vitro construct
(Baek et al., 2021)
Progenitor genotype
Carried in construct
P{UAS-hCHCHD10.S59L}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\CHCHD10 that carries a S59L amino acid substitution (a pathogenic variant).

(Baek et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\CHCHD10
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 )
      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.
      (Baek et al., 2021)
      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

      The expression from one or two copies of Hsap\CHCHD10S59L.UAS under the control of Scer\GAL4GMR.PU induces eye degeneration, with a rough eye and depigmentation as the flies age.

      The expression from two copies of Hsap\CHCHD10S59L.UAS under the control of Scer\GAL4VGlut-OK371 leads to third instar larvae showing decreased crawling ability.

      The expression from two copies of Chchd2S81L.UAS under the control of Scer\GAL4Mhc.PW leads to 20-days-old adults showing indirect flight muscle defects, with mitochondria fragmentation.

      (Baek et al., 2021)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      Hsap\CHCHD10S59L.UAS, Scer\GAL4GMR.PU has eye phenotype, suppressible | partially by Pink1GD11336, Scer\GAL4GMR.PU

      (Baek et al., 2021)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      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
      Hsap\CHCHD10S59L.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)