FB2024_03 , released June 25, 2024
Allele: Dmel\FIG4Δ1
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General Information
Symbol
Dmel\FIG4Δ1
Species
D. melanogaster
Name
FlyBase ID
FBal0322830
Feature type
allele
Associated gene
Dmel\FIG4
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

amorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - genetic evidence

(Bharadwaj et al., 2016)
Mutagen
P-element activity
(Bharadwaj et al., 2016)
Progenitor genotype
P{EP}G3648
(Bharadwaj et al., 2016)
Cytology
Description

322bp deletion that removes the first FIG4 exon (including the translation start site) and part of the second exon (coordinates 2L:4465214..4465535 , release 6 genome sequence, are deleted). The deletion introduces a frameshift in the remaining open reading frame. Generated by imprecise excision of P{EP}G3648.

(Bharadwaj et al., 2016)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
2L:4,465,214..4,465,535 [+]
Comment:

A 322 bp deletion associated with the imprecise excsion of P{EP}G3648.

(Bharadwaj et al., 2016)
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  amyotrophic lateral sclerosis type 11
      CEA
      (Bharadwaj et al., 2016)
      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

      FIG4Δ1 flies are homozygous viable but show age-progressive flight defects.

      FIG4Δ1 homozygous as well as FIG4Δ1/Df(2L)FIG4-Δ2 transheterozygous third instar larvae show expansion of lysosomal structures in the somatic muscles and motor neurons in the larval CNS but no defects in autophagosome formation are observed in fat bodies of starved FIG4 homozygous larvae.

      (Bharadwaj et al., 2016)
      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

      FIG4Δ1 is rescued by FIG4UAS.Tag:MYC/Scer\GAL4Mef2.PU

      (Bharadwaj et al., 2016)

      FIG4Δ1 is rescued by Scer\GAL4Mef2.PU/FIG4C450S.UAS.Tag:MYC

      (Bharadwaj et al., 2016)
      Partially rescued by

      FIG4Δ1 is partially rescued by Scer\GAL4Mef2.PU/FIG4I41T.UAS.Tag:MYC

      (Bharadwaj et al., 2016)

      FIG4Δ1 is partially rescued by Scer\GAL4Mef2.PU/FIG4L17P.UAS.Tag:MYC

      (Bharadwaj et al., 2016)

      FIG4Δ1 is partially rescued by FIG4D53Y.UAS.Tag:MYC/Scer\GAL4Mef2.PU

      (Bharadwaj et al., 2016)
      Comments

      Expression of FIG4Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Mef2.PU fully rescues the lysosome expansion phenotype in somatic muscles of FIG4Δ1 homozygous third instar larvae.

      (Bharadwaj et al., 2016)
      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
      FIG4Δ1
      Fig4Δ1
      (Bharadwaj et al., 2016)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)