FlyBase Allele Report: Dmel\Chchd2[H43]

General Information

Symbol

Dmel\Chchd2^H43

Species

D. melanogaster

Name

FlyBase ID

FBal0326926

Feature type

allele

Associated gene

Dmel\Chchd2

Associated Insertion(s)

P{?EPgy2}Chchd2^H43

Carried in Construct

Key Links

Allele class

hypomorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - molecular evidence

(Meng et al., 2017)

Mutagen

Progenitor genotype

P{EPgy2}Chchd2^EY05234

(Meng et al., 2017)

Associated Insertion(s)

P{?EPgy2}Chchd2^H43

Cytology

Description

Imprecise excision of the progenitor. A 401 bp fragment of P{EPgy2}Chchd2^EY05234 remains just 1 bp upstream of the Chchd2 transcription start.

(Meng et al., 2017)

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 )

Disease

Evidence

References

model of Parkinson's disease

CEA

(Meng et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Parkinson's disease

is ameliorated by Chchd2^UAS.cMa

(Meng et al., 2017)

is NOT ameliorated by Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

is NOT ameliorated by Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

is ameliorated by Hsap\CHCHD2^WT.UAS

(Meng et al., 2017)

is ameliorated by Thor^UAS.cMa

(Meng et al., 2017)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage | progressive

(Meng et al., 2017)

chemical sensitive | adult stage

(Meng et al., 2017)

decreased cell number | adult stage | progressive

(Meng et al., 2017)

short lived

(Meng et al., 2017)

viable

(Meng et al., 2017)

Phenotype Manifest In

dopaminergic PPL1 neuron | adult stage | progressive

(Meng et al., 2017)

mitochondrial crista | adult stage | progressive

(Meng et al., 2017)

mitochondrion | adult stage | progressive

(Meng et al., 2017)

Detailed Description

Statement

Reference

Chchd2^H43 homozygous 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 and a decreased life-span, including upon paraquat treatment, hydrogen peroxide treatment and starvation, as compared to controls; the mitochondria from adult indirect flight muscles present a progressive increase in the frequency and severity of morphology defects, including disordering, swirling and fragmentation of the cristae, and dilatation of the matrix space, as compared to controls; the adult brain of these individuals exhibit a progressive decrease in the number of dopaminergic PPL1 neurons, without evidence of increased apoptosis, but insignificant changes in the number of dopaminergic PAL, PPM1/2, PPM3 and PPL2 neurons, as compared to controls.

(Meng et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Chchd2^H43 has short lived phenotype, suppressible by Scer\GAL4^Ddc.PU/Thor^UAS.cMa

(Meng et al., 2017)

Chchd2^H43 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible by Scer\GAL4^Ddc.PU/Thor^UAS.cMa

(Meng et al., 2017)

Chchd2^H43 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible | partially by Hsap\CHCHD2^WT.UAS/Scer\GAL4^da.PU

(Meng et al., 2017)

Chchd2^H43 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible | partially by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Chchd2^H43 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible | partially by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

Chchd2^H43 has short lived phenotype, suppressible | partially by Hsap\CHCHD2^WT.UAS/Scer\GAL4^da.PU

(Meng et al., 2017)

Chchd2^H43 has chemical sensitive | adult stage phenotype, suppressible | partially by Hsap\CHCHD2^WT.UAS/Scer\GAL4^da.PU

(Meng et al., 2017)

NOT suppressed by

Statement

Reference

Chchd2^H43 has short lived phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

Chchd2^H43 has chemical sensitive | adult stage phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

Chchd2^H43 has short lived phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Chchd2^H43 has chemical sensitive | adult stage phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Chchd2^H43 has mitochondrion | adult stage | progressive phenotype, enhanceable by Scer\GAL4^Mhc.PU/Mics1^NIG.1287R

(Meng et al., 2017)

Chchd2^H43 has mitochondrial crista | adult stage | progressive phenotype, enhanceable by Scer\GAL4^Mhc.PU/Mics1^NIG.1287R

(Meng et al., 2017)

Suppressed by

Statement

Reference

Chchd2^H43 has mitochondrion | adult stage | progressive phenotype, suppressible by Mics1^{UAS.ORF.GW.Tag:HA}/Scer\GAL4^Mhc.PU

(Meng et al., 2017)

Chchd2^H43 has mitochondrial crista | adult stage | progressive phenotype, suppressible by Mics1^{UAS.ORF.GW.Tag:HA}/Scer\GAL4^Mhc.PU

(Meng et al., 2017)

Chchd2^H43 has dopaminergic PPL1 neuron | adult stage | progressive phenotype, suppressible by Scer\GAL4^Ddc.PU/Thor^UAS.cMa

(Meng et al., 2017)

Chchd2^H43 has mitochondrion | adult stage | progressive phenotype, suppressible by Hsap\CHCHD2^WT.UAS/Scer\GAL4^da.PU

(Meng et al., 2017)

Chchd2^H43 has mitochondrial crista | adult stage | progressive phenotype, suppressible by Hsap\CHCHD2^WT.UAS/Scer\GAL4^da.PU

(Meng et al., 2017)

Chchd2^H43 has dopaminergic PPL1 neuron | adult stage | progressive phenotype, suppressible by Hsap\CHCHD2^WT.UAS/Scer\GAL4^da.PU

(Meng et al., 2017)

NOT suppressed by

Statement

Reference

Chchd2^H43 has mitochondrion | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Chchd2^H43 has mitochondrial crista | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Chchd2^H43 has flight muscle cell | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Chchd2^H43 has dopaminergic PPL1 neuron | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^T61I.UAS

(Meng et al., 2017)

Chchd2^H43 has mitochondrion | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

Chchd2^H43 has mitochondrial crista | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

Chchd2^H43 has flight muscle cell | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

Chchd2^H43 has dopaminergic PPL1 neuron | adult stage | progressive phenotype, non-suppressible by Scer\GAL4^da.PU/Hsap\CHCHD2^R145Q.UAS

(Meng et al., 2017)

NOT Enhancer of

Statement

Reference

Chchd2^H43/Chchd2^H43 is a non-enhancer of mitochondrion | adult stage phenotype of Pink1^RNAi.UAS.cYa, Scer\GAL4^Mhc.PU

(Meng et al., 2017)

Chchd2^H43/Chchd2^H43 is a non-enhancer of mitochondrion | adult stage phenotype of park^Δ21/park¹

(Meng et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

The frequency and severity of the mitochondria morphological defects displayed in the adult indirect flight muscles of Chchd2^H43 homozygotes are significantly enhanced by the expression of Mics1^NIG.1287R under the control of Scer\GAL4^Mhc.PU, while being suppressed by the expression of Mics1^{Scer\UAS.ORF.GW.T:Ivir\HA1} under the control of Scer\GAL4^Mhc.PU. The decreased life-span, the locomotor defects and the decreased number of dopaminergic PPL1 neurons in the brain presented by Chchd2^H43 homozygous adults are also suppressed by the expression of Thor^Scer\UAS.cMa under the control of Scer\GAL4^Ddc.PU.

Homozygosity for Chchd2^H43 does not enhance the mitochondria morphology defects of the adult indirect flight muscles from either park¹/park^Δ21 transheterozygotes or individuals expressing Pink1^{dsRNA.Scer\UAS} under the control of Scer\GAL4^Mhc.PU.

(Meng et al., 2017)

Xenogenetic Interactions

Statement

Reference

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 Chchd2^H43 homozygotes, are all partially suppressed by the expression of Hsap\CHCHD2^WT.Scer\UAS, but not of Hsap\CHCHD2^{T61I.Scer\UAS} or Hsap\CHCHD2^{R145Q.Scer\UAS}, under the control of Scer\GAL4^da.PU. The Scer\GAL4^da.PU-driven expression of Hsap\CHCHD2^WT.Scer\UAS, Hsap\CHCHD2^{T61I.Scer\UAS} or Hsap\CHCHD2^{R145Q.Scer\UAS} partially suppresses the adult locomotor defects presented by Chchd2^H43 homozygous but does not significantly change their numbers of dopaminergic PAL, PPM1/2, PPM3 or PPL2 neurons in the adult brain.

(Meng et al., 2017)

Complementation and Rescue Data

Partially rescued by

Chchd2^H43 is partially rescued by Chchd2^UAS.cMa/Scer\GAL4^da.PU

(Meng et al., 2017)

Comments

The decreased life-span, the locomotor defects and the mitochondria morphology defects in indirect flight muscle mitochondria presented by Chchd2^H43 homozygous adults are partially rescued by the expression of Chchd2^Scer\UAS.cMa under the control of Scer\GAL4^da.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 (2)

Reported As

Symbol Synonym

Chchd2^H43

dCHCHD2^H43

(Meng et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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