FB2025_01 , released February 20, 2025
Allele: Dmel\PIG-VA276V
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General Information
Symbol
Dmel\PIG-VA276V
Species
D. melanogaster
Name
FlyBase ID
FBal0290875
Feature type
allele
Associated gene
Dmel\PIG-V
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

hypomorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - genetic evidence

(Rosenbaum et al., 2012)
Mutagen
ethyl methanesulfonate
(Rosenbaum et al., 2012)
Progenitor genotype
Cytology
Description

Amino acid replacement: A276V.

(Rosenbaum et al., 2012)

Nucleotide substitution: C827T.

(Rosenbaum et al., 2012)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:16,956,579..16,956,579 [+]
Nucleotide change:

C16956579T

Reported nucleotide change:

C827T

Amino acid change:

A276V | PIG-V-PA; A276V | PIG-V-PB; A276V | PIG-V-PC

Reported amino acid change:

A276V

(Rosenbaum et al., 2012)
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 rhabdomeres are reduced in size in 1 day old mutants raised on a 12 hour light: 12 hour dark cycle. The rhabdomere microvilli are disorganised and collapsing from the periphery of the rhabdomere. By 2 weeks of age, there are further defects in the overall structural integrity of the photoreceptor cells and the rhabdomeres are nearly absent.

      (Rosenbaum et al., 2012)
      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
      Complements

      vegZ322

      (Rosenbaum et al., 2012)

      vegk07202

      (Rosenbaum et al., 2012)

      vegk03402

      (Rosenbaum et al., 2012)
      Fails to complement

      PIG-Vf05618

      (Rosenbaum et al., 2012)
      Rescued by

      PIG-VA276V is rescued by PIG-VninaE.PR

      (Rosenbaum et al., 2012)

      PIG-VA276V is rescued by PIG-VW62L.ninaE

      (Rosenbaum et al., 2012)
      Partially rescued by

      PIG-VA276V is partially rescued by PIG-VQ306A.ninaE

      (Rosenbaum et al., 2012)
      Not rescued by

      PIG-VA276V is not rescued by PIG-VD63A.ninaE

      (Rosenbaum et al., 2012)

      PIG-VA276V is not rescued by PIG-VW310L.ninaE

      (Rosenbaum et al., 2012)
      Comments

      PIG-VninaE.PR rescues the rhabdomere degeneration seen in PIG-VA276V flies.

      PIG-VA276V adults expressing PIG-VW62L.ninaE show a wild-type deep pseudopupil and normal rhabdomere morphology at two weeks of age.

      PIG-VA276V adults expressing either PIG-VD63A.ninaE or PIG-VW310L.ninaE show chaoptic rhabdomeres and severe retinal degeneration at two weeks of age.

      PIG-VA276V adults expressing PIG-VQ306A.ninaE show some retinal degeneration at 2 weeks of age: the rhabdomeres show signs of microvillar instability and there is an overall disruption in photoreceptor cell organisation compared to wild type.

      (Rosenbaum et al., 2012)
      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
      PIG-VA276V
      gpi-mt2A276V
      (Rosenbaum et al., 2012)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)