FB2024_03 , released June 25, 2024
Allele: Dmel\ND-2360114
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General Information
Symbol
Dmel\ND-2360114
Species
D. melanogaster
Name
FlyBase ID
FBal0343558
Feature type
allele
Associated gene
Dmel\ND-23
Associated Insertion(s)
Carried in Construct
Also Known As
ND2360114
Key Links
Allele class

hypomorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - molecular evidence

(Loewen and Ganetzky, 2018)
Mutagen
ethyl methanesulfonate
(Loewen and Ganetzky, 2018)
Progenitor genotype
Cytology
Description

Six nucleotide changes relative to the U37541 reference mitochondrion sequence. Three of the changes are synonymous, two are in an intron but are not in splicing or branch consensus sequences. The final change is a G to A substitution 847 bases from the translation start site, which results in the G199D amino acid replacement.

(Loewen and Ganetzky, 2018)
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  Leigh disease
      CEA
      (Loewen and Ganetzky, 2018)
      CEA with ND-23G14097
      (Loewen and Ganetzky, 2018)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      ND-2360114/ND-23G14097 transheterozygotes show a progressive decrease in adult climbing capacity, a progressive bang-sensitive paralysis and enlarged mitochondria in their PPM2 neurons, as compared to controls; ND-2360114 homozygous and ND-2360114/ND-23G14097 transheterozygous adults also show significant signs of neurodegeneration (i.e brain vacuolization), as compared to either heterozygous controls. Transheterozygous progeny from ND-2360114/+ mothers and ND-23G14097/+ fathers show more severe defects in lifespan, climbing activity and neurodegeneration than progeny from the reciprocal cross between ND-2360114/+ fathers and ND-23G14097/+ mothers, which suggests a maternal effect and which seems to be due to differences in the mitochondrial DNA of the ND-2360114 stock.

      Similarly, ND-2360114/Df(3R)Exel8162 transheterozygotes also show a progressive decrease in adult climbing capacity, bang-sensitive paralysis, temperature-sensitive paralysis and significant signs of neurodegeneration (i.e brain vacuolization), as compared to Df(3R)Exel8162 heterozygous controls. Transheterozygous progeny from ND-2360114/+ mothers and Df(3R)Exel8162/+ fathers show more severe defects in lifespan and climbing activity than progeny from the reciprocal cross between ND-2360114/+ fathers and Df(3R)Exel8162/+ mothers.

      (Loewen and Ganetzky, 2018)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      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
      ND-2360114
      ND2360114
      (Olufs et al., 2020, Loewen and Ganetzky, 2018, Olufs et al., 2018)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)