FB2024_03 , released June 25, 2024
Allele: Dmel\PIP821bpΔ
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General Information
Symbol
Dmel\PIP821bpΔ
Species
D. melanogaster
Name
FlyBase ID
FBal0362064
Feature type
allele
Associated gene
Dmel\PIP82
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

amorphic allele - genetic evidence

amorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

amorphic allele - genetic evidence

(Zelhof et al., 2020)

amorphic allele - molecular evidence

(Zelhof et al., 2020)
Mutagen
CRISPR/Cas9
(Zelhof et al., 2020)
Progenitor genotype
Cytology
Description

Single nucleotide deletion within the second exon. This results in a frameshift that is predicted to result in a premature stop codon.

(Zelhof et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
X:8,529,055..8,529,055 [-]
Comment:

A 1bp deletion in PIP82 leads to a frameshift after aa 107 and early translation termination after the addition of 38 novel amino acids.

(Zelhof et al., 2020)
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

      PIP821bpΔ homozygous adult R3, R5 and R7 photoreceptors exhibit a decrease in size of the stalk membrane and rhabdomere base.

      PIP821bpΔ homozygous or PIP821bpΔ/Df(1)BSC592 photoreceptor cells exhibit progressively misshapen rhabdomeres. In 7-day-old PIP821bpΔ homozygotes, rhabdomeres have irregular, misaligned and fragmented structure; and the alignment or organization of the microvillar projections along the depth of the retina are not maintained.

      Electroretinograms of PIP821bpΔ homozygotes have larger response amplitudes compared to controls.

      (Zelhof et al., 2020)
      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
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      PIP821bpΔ
      (Feizy et al., 2024, Zelhof et al., 2020)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)