FB2024_04 , released June 25, 2024
Allele: Dmel\Lrpprc2E
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General Information
Symbol
Dmel\Lrpprc2E
Species
D. melanogaster
Name
FlyBase ID
FBal0319264
Feature type
allele
Associated gene
Dmel\Lrpprc2
Associated Insertion(s)
Carried in Construct
Also Known As
pprE
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Jaiswal et al., 2015)
Progenitor genotype
Cytology
Description

Amino acid replacement: Q351term.

(Jaiswal et al., 2015)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:1,459,508..1,459,508 [-]
Nucleotide change:

C1459508T

Amino acid change:

Q351term | Lrpprc2-PA

Reported amino acid change:

Q351term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Jaiswal et al., 2015)
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  Leigh disease
      CEA
      (Jaiswal et al., 2015)
      model of  French Canadian Leigh disease
      CEA
      (Cheramangalam et al., 2023)
      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

      Lrpprc2E/Lrpprc2E full eye mutant clones show age-dependent defects in electroretinograms (ERGs): 5 week old flies show a dramatic reduction in ERG amplitude and loss of on and off transients in response to light; this phenotype is light-dependent (no ERG change in dark conditions). Retinas of controls, young (2-3 day old) Lrpprc2E/Lrpprc2E flies or Lrpprc2E/Lrpprc2E flies raised in dark conditions for three weeks show similar morphological features, whereas 3 week old Lrpprc2E/Lrpprc2E mutants raised in light/dark conditions show photoreceptor degeneration of rhabdomeres R1-R6 (but not R7 or R8). Lrpprc2E/Lrpprc2E clones show rapid run-down of ERG amplitude and on/off transients in response to repetitive pulses of light and show (slower) recovery of the light response upon rest (compared to controls showing modest run-down and quicker recovery).

      (Jaiswal et al., 2015)
      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

      Lrpprc2E is rescued by Lrpprc2+tCH322-75O21

      (Jaiswal et al., 2015)

      Lrpprc2E is rescued by Lrpprc2+t5

      (Jaiswal et al., 2015)

      Lrpprc2E is rescued by Lrpprc2EGFP

      (Jaiswal et al., 2015)
      Comments

      Lrpprc2+tCH322-75O21 or Lrpprc2+t5 or Lrpprc2T:Avic\GFP-EGFP rescues the early pupal lethality (and Lrpprc2+tCH322-75O21 rescues the light-dependent photoreceptor degeneration in 3 week old flies) in Lrpprc2E/Lrpprc2E mutants.

      (Jaiswal et al., 2015)
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Lrpprc2E
      lrpprc2E
      (Cheramangalam et al., 2023)
      pprE
      (Cheramangalam et al., 2023, Jaiswal et al., 2015)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)