FB2025_02 , released April 17, 2025
Allele: Dmel\Elp31
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General Information
Symbol
Dmel\Elp31
Species
D. melanogaster
Name
FlyBase ID
FBal0230264
Feature type
allele
Associated gene
Dmel\Elp3
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Simpson et al., 2009)
Progenitor genotype
Cytology
Description

Amino acid replacement: R475K.

(Simpson et al., 2009)

An amino acid mutation disrupts the GNAT domain of Elp3.

(Simpson et al., 2009)

Nucleotide substitution: G?A.

(Simpson et al., 2009)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:4,446,405..4,446,405 [+]
Nucleotide change:

G4446405A

Reported nucleotide change:

G?A

Amino acid change:

R475K | Elp3-PA

Reported amino acid change:

R475K

(Simpson et al., 2009)
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

      Elp31 mutants exhibit striking electroretinogram phenotypes. The photoreceptor layer depolarises less in response to a one second light pulse and the on and off transients are also dramatically reduced when compared to controls, suggesting abnormal neuronal communication. While the R7 and R8 photoreceptors project into the medula, the projection pattern is disrupted and the array of photoreceptor terminals are disordered.

      (Simpson et al., 2009)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      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
      Elp31
      (Simpson et al., 2009)
      elp31
      (Miśkiewicz et al., 2011)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)