FB2024_03 , released June 25, 2024
Allele: Dmel\PNPaseKO
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General Information
Symbol
Dmel\PNPaseKO
Species
D. melanogaster
Name
FlyBase ID
FBal0352214
Feature type
allele
Associated gene
Dmel\PNPase
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

(Pajak et al., 2019)
Mutagen
CRISPR/Cas9
(Pajak et al., 2019)
Progenitor genotype
Cytology
Description

A deletion of 8 nucleotides in exon 2 of PNPase, leading to a frame shift and a premature stop codon in the corresponding transcript.

(Pajak et al., 2019)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
3R:31,404,326..31,404,333 [-]
Reported_genomic_loc:

3R_r6:31404326..31404333

Comment:

An 8bp deletion in the second exon of PNPase leads to a frameshift and early translation termination.

(Pajak et al., 2019)
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

      PNPaseKO homozygous larvae do not have any obvious differences in mitochondrial morphology, compared to controls.

      (Pajak et al., 2019)
      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
      Comments
      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
      PNPaseKO
      dmpnpaseKO
      (Pajak et al., 2019)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)