FB2024_03 , released June 25, 2024
Allele: Hsap\CHCHD2T61I.UAS
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General Information
Symbol
Hsap\CHCHD2T61I.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0326930
Feature type
allele
Associated gene
Hsap\CHCHD2
Associated Insertion(s)
Carried in Construct
P{UAS-Hsap\CHCHD2.T61I}
Key Links
Transgenic product class
missense_variant
(Meng et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Meng et al., 2017)
Mutagen
in vitro construct
(Meng et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-Hsap\CHCHD2.T61I}
Cytology
Description

UAS regulates expression of the Hsap\CHCHD2 cDNA containing the T61I mutation found in Parkinson Disease cases.

(Meng et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\CHCHD2
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      DOES NOT ameliorate  Parkinson's disease
      modeled by Chchd2H43
      (Meng et al., 2017)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Meng et al., 2017)
      CHCHD2:p.Thr61Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: CHCHD2_218882
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      T

      (Meng et al., 2017)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressor of
      NOT Suppressor of
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The expression of Hsap\CHCHD2T61I.Scer\UAS under the control of Scer\GAL4da.PU partially suppresses the adult locomotor defects, but not the decreased life-span, the increased mortality upon treatment with hydrogen peroxide, the mitochondria morphology defects in adult indirect flight muscles and the decreased number of dopaminergic PPL1 neurons in the adult brain, presented by Chchd2H43 homozygotes; this expression also does significantly change the numbers of dopaminergic PAL, PPM1/2, PPM3 or PPL2 neurons in the adult brain of Chchd2H43 homozygotes.

      The expression of Hsap\CHCHD2T61I.Scer\UAS under the control of Scer\GAL4da.PU does not induce mitochondria morphology defects in the adult indirect flight muscles of Chchd2null heterozygotes, as compared to controls.

      (Meng et al., 2017)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\CHCHD2T61I.Scer\UAS
      Hsap\CHCHD2T61I.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)