FB2025_01 , released February 20, 2025
Allele: Dmel\MarfT105Mlike.UAS
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General Information
Symbol
Dmel\MarfT105Mlike.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0344038
Feature type
allele
Associated gene
Dmel\Marf
Associated Insertion(s)
Carried in Construct
P{UAS-Marf.T105Mlike}
Key Links
Transgenic product class
missense_variant
(El Fissi et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(El Fissi et al., 2018)
Mutagen
in vitro construct
(El Fissi et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-Marf.T105Mlike}
Cytology
Description

UASt regulates expression of Marf bearing a T146M mutation, equivalent to the T105M mutation in Hsap\MFN2 implicated in Charcot-Marie-Tooth disease type 2A. The construct lacks the 5' and 3' Marf UTRs, and has only a kozak CAAA sequence added in front of the ATG.

(El Fissi et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Marf
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  Charcot-Marie-Tooth disease type 2
      CEA
      (El Fissi et al., 2018)
      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.
      (El Fissi et al., 2018)
      MFN2:p.Thr105Met
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: MFN2_214652
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of MarfT105Mlike.UAS under the control of Scer\GAL4elav.PU induces paralysis that prevents hatching of adults and induces bigger mitochondria in larval motor neuron cell bodies, as compared to controls. Expression under the control of Scer\GAL4VGlut-OK371 also induces bigger mitochondria in larval motor neuron cell bodies, which fail to fuse although their cristae and matrix are electron dense and not distended, as compared to controls.

      (El Fissi et al., 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 (1)
      Reported As
      Symbol Synonym
      MarfT105Mlike.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)