FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Chchd2null
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General Information
Symbol
Dmel\Chchd2null
Species
D. melanogaster
Name
FlyBase ID
FBal0326927
Feature type
allele
Associated gene
Dmel\Chchd2
Associated Insertion(s)
Carried in Construct
Also Known As
CG5010null
Key Links
Genomic Maps

Allele class

amorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - molecular evidence

(Meng et al., 2017)
Mutagen
CRISPR/Cas9
(Meng et al., 2017)
Progenitor genotype
Cytology
Description

Almost all of the coding regions are removed.

(Meng et al., 2017)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
X:17,149,151..17,150,302 [+]
Comment:

1152 bp deletion which removes all but the first five amino acids of the Chchd2 coding region.

(Meng et al., 2017)
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 ( 1 )
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      FlyBase curator comment: "Parkinson's disease 22" is associated with mutations in human CHCHD2.

      (Imai et al., 2019)
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Chchd2null homozygotes show decreased flight ability and a progressive decrease in climbing ability. Their indirect flight muscles show mitochondria cristae defects. There are decreased numbers of PPL1, PPM2 and PPM3 neurons.

      (Imai et al., 2019)

      Chchd2null homozygous larvae do not exhibit growth delays, and adults are viable, eclose from the pupal case at the expected mendelian ratio and do not present visible morphological defects, but present a progressive decrease in locomotion in negative geotaxis assays, as compared to controls; the adult flight muscles present mild atrophy, associated with an irregular nuclear distribution and an increased proportion of apoptotic cells, as compared to controls; the adult brain does not exhibit significant changes in the number of apoptotic dopaminergic neurons, as compared to controls; mitochondria from adult indirect flight muscles exhibit progressive increases in the frequency and severity of morphological defects, both in normoxia or hyperoxia conditions, including disordering, swirling and fragmentation of the cristae, and dilatation of the matrix space, as compared to controls; embryonic-derived mitochondria present evidence of impaired function, namely significant decreases in oxygen consumption rate, ATP production rate and spare respiration capacity, but insignificant changes in extracellular acidification rate or protein leakage rate.

      Chchd2null hemizygous males exhibit a significant decrease in life-span and a significant decrease in the number of dopaminergic PPL1 neurons, but not of dopaminergic PAL, PPM1/2, PPM3 and PPL2 neurons, in the adult brain, as compared to controls.

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

      The adult locomotor defects of Chchd2null homozygotes are suppressed by the expression of Mics1Scer\UAS.ORF.GW.T:Ivir\HA1 under the control of Scer\GAL4Mhc.PU, but not by the expression of Sod1Scer\UAS.cAa under the control of Scer\GAL4da.PU. The mitochondria morphology defects in adult indirect flight muscle exhibited by Chchd2null homozygotes are suppressed by the expression of ThorScer\UAS.cMa under the control of Scer\GAL4da.PU, but are not enhanced by homozygosity for dj-1βΔ93.

      Chchd2null homozygosity does not significantly affect the larval growth delay induced by the expression of Mics1Scer\UAS.ORF.GW.T:Ivir\HA1 under the control of Scer\GAL4Mhc.PU.

      The decreased life-span of Chchd2null hemizygous males is enhanced by the expression of dj-1βScer\UAS.cMa, and is not suppressed by the expression of Sod1Scer\UAS.cAa, under the control of Scer\GAL4da.PU. The decreased number of

      dopaminergic PPL1 neurons in the adult brain of Chchd2null hemizygous males is not suppressed by the expression 0f Sod1Scer\UAS.cAa, under the control of Scer\GAL4da.PU.

      (Meng et al., 2017)
      Xenogenetic Interactions
      Statement
      Reference

      The decreased life-span of Chchd2null hemizygous males is partially suppressed by the expression of Hsap\CHCHD2WT.Scer\UAS, but not of Hsap\PARK7Scer\UAS.cYa, under the control of Scer\GAL4da.PU.

      The mitochondria morphology defects in the adult indirect flight muscles of Chchd2null homozygotes are not significantly suppressed by the expression of Hsap\CHCHD2T61I.Scer\UAS or Hsap\CHCHD2R145Q.Scer\UAS under the control of Scer\GAL4Mhc.PU.

      Chchd2null heterozygotes expressing either Hsap\CHCHD2T61I.Scer\UAS or Hsap\CHCHD2R145Q.Scer\UAS under the control of Scer\GAL4da.PU do not present significant mitochondria morphology defects in adult indirect flight muscles, as compared to controls.

      (Meng et al., 2017)
      Complementation and Rescue Data
      Partially rescued by

      Chchd2null is partially rescued by Chchd2UAS.cMa/Scer\GAL4da.PU

      (Meng et al., 2017)
      Fails to rescue

      Chchd2null fails to rescue Chchd2S81L.UAS

      (Baek et al., 2021)
      Comments

      The decreased life-span of Chchd2null hemizygous males is partially rescued by the expression of Chchd2Scer\UAS.cMa under the control of Scer\GAL4da.PU.

      (Meng et al., 2017)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (5)
      Reported As
      Symbol Synonym
      C2C10Hnull
      (Baek et al., 2021)
      CG5010null
      (Ikeda et al., 2024, Imai et al., 2019, Mori et al., 2019)
      CHCHD2 null
      (Ikeda et al., 2019)
      Chchd2null
      dCHCHD2null
      (Meng et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (6)