FB2025_01 , released February 20, 2025
Allele: Dmel\MarfE
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General Information
Symbol
Dmel\MarfE
Species
D. melanogaster
Name
FlyBase ID
FBal0299661
Feature type
allele
Associated gene
Dmel\Marf
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Sandoval et al., 2014)
Progenitor genotype
Cytology
Description
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:6,369,830..6,369,830 [+]
Nucleotide change:

T6369830A

Amino acid change:

V691E | Marf-PB; V691E | Marf-PC; V695E | Marf-PD

Reported amino acid change:

V695E

Comment:

Site of reported amino acid change is relative to Marf-PD. Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Sandoval, 2015.5.4)
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 ( 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

      The neuromuscular junction of MarfE displays decreased response to high-frequency stimulation (evoked excitatory junction potential amplitude).

      (Ugur et al., 2017)

      Homozygotes die as third instar larvae after an extended larval period of 18-21 days.

      Homozygous clones in the eye result in electroretinogram defects. Mutant photoreceptor cells show a loss of mitochondria in their terminals.

      The neuromuscular junctions of homozygous and MarfB/MarfE larvae have normal electrophysiological properties when stimulated at low frequency (0.2 Hz): evoked excitatory junction potential (EJP) amplitude, miniature EJP amplitude and quantal content are all normal. However, upon high frequency stimulation (10Hz for 10 minutes), the mutant neuromuscular junctions are unable to sustain a response, with the EJP amplitude progressively decreasing over time. Endocytosis appears unaffected in the mutant neuromuscular junctions.

      (Sandoval et al., 2014)
      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
      Rescued by

      MarfE is rescued by MarfTag:HA

      (Sandoval et al., 2014)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      MarfE
      (Chen et al., 2020, Ponte et al., 2020, Ugur et al., 2017, Sandoval, 2015.5.4, Sandoval et al., 2014)
      Name Synonyms
      Secondary FlyBase IDs
        References (5)