FB2025_01 , released February 20, 2025
Allele: Dmel\Gos281
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General Information
Symbol
Dmel\Gos281
Species
D. melanogaster
Name
FlyBase ID
FBal0303948
Feature type
allele
Associated gene
Dmel\Gos28
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

amorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - molecular evidence

(Rosenbaum et al., 2014)
Mutagen
ethyl methanesulfonate
(Rosenbaum et al., 2014)
Progenitor genotype
Cytology
Description
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
3R:18,663,944..18,663,944 [+]
Comment:

A single nucleotide deletion at cytosine 84.

(Rosenbaum et al., 2014)
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  neurodegenerative disease
      CEA
      (Rosenbaum et al., 2014)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  neurodegenerative disease
      is ameliorated by Gos28TMD.ninaE
      (Rosenbaum et al., 2014)
      is ameliorated by Hsap\GOSR1ninaE.PR
      (Rosenbaum et al., 2014)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Gos281 mutants show pseudo-pupil defects.

      Electroretinogram analysis reveals that the light response is normal in Gos281 mutant photoreceptor cells. Additionally, the Gos281 mutants demonstrate a prolonged depolarising after-potential in response to blue light stimulation. Synaptic transmission between the photoreceptor cells and their second order neurons in the brain also appears normal in the Gos281 mutant.

      The Gos281 mutation leads to age-related retinal degeneration. Defects in photoreceptor cell morphology are observed in young Gos281 mutants, compared with wild-type. There is substantial vacuolation of the cells, and, at higher magnification, enlarged ER and Golgi membranes are observed. By one month of age, the vacuolated tissue is significantly more prominent in the Gos281 mutants, and in many cases, entire clusters of photoreceptor cells are missing.

      (Rosenbaum et al., 2014)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      Gos281 has retina phenotype, suppressible by Hsap\GOSR1ninaE.PR

      (Rosenbaum et al., 2014)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Introduction of Hsap\GOSR1ninaE.PR into the genome of the Gos281 mutant prevents retinal degeneration in Gos281 mutants.

      (Rosenbaum et al., 2014)
      Complementation and Rescue Data
      Fails to complement

      Gos28EY14669

      (Rosenbaum et al., 2014)
      Rescued by

      Gos281 is rescued by Gos28ninaE.PR

      (Rosenbaum et al., 2014)

      Gos281 is rescued by Gos28TMD.ninaE

      (Rosenbaum et al., 2014)
      Comments

      Introduction of Gos28ninaE.PR into the genome of the Gos281 mutant prevents retinal degeneration.

      Expression of Gos28TMD.ninaE rescues the retinal degeneration in Gos281 mutant flies.

      (Rosenbaum et al., 2014)
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Gos281
      gos281
      (Rosenbaum et al., 2014)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)