FB2025_01 , released February 20, 2025
Allele: Dmel\Nrd1W369X
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General Information
Symbol
Dmel\Nrd1W369X
Species
D. melanogaster
Name
FlyBase ID
FBal0325132
Feature type
allele
Associated gene
Dmel\Nrd1
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

loss of function allele

Mutagen
Nature of the Allele
Allele class

loss of function allele

(Yoon et al., 2017)
Mutagen
ethyl methanesulfonate
(Graves et al., 2020, Yoon et al., 2017, Yamamoto et al., 2013-)
Progenitor genotype
Cytology
Description

Amino acid replacement: W369term.

(Graves et al., 2020, Yoon et al., 2017, Yamamoto et al., 2013-)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:11,867,575..11,867,575 [-]
Nucleotide change:

G11867575A

Amino acid change:

W369term | Nrd1-PA

Reported amino acid change:

W369term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Yoon et al., 2017)
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
      (Yoon et al., 2017)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      A neurodegenerative disorder has been ascribed to a loss of function mutation of Nrd1 in a patient. Mutations in two known disease-related genes have also been identified in this patient but those have either been reported as benign or their known clinical symptoms do not match the phenotype of the patient.

      (Yoon et al., 2017)
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Adult flies with Nrd1W369X mutant retinal somatic clones show age-progressive loss of synaptic transmission in photoreceptor cells characterized by loss of on- and off-transients in electroretinogram readings compared to wild-type controls.

      (Yoon et al., 2017)
      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

      The pupal lethality of the Nrd1W369X mutants can be rescued by expression of Hsap\NRDCScer\UAS.T:SV5\V5 but not Hsap\NRDCM636Vstop.Scer\UAS.T:SV5\V5 under the control of Scer\GAL4da.G32 in the mutant background.

      (Yoon et al., 2017)
      Complementation and Rescue Data
      Fails to complement

      Nrd1K134X

      (Yoon et al., 2017)
      Rescued by

      Nrd1W369X is rescued by Nrd1+t5

      (Yoon et al., 2017)

      Nrd1W369X is rescued by Nrd1+tCH322-77E05

      (Yoon et al., 2017)

      Nrd1W369X is rescued by Nrd1UAS.Tag:V5/Scer\GAL4da.G32

      (Yoon et al., 2017)
      Not rescued by

      Nrd1W369X is not rescued by Nrd1UAS.mCherry/Scer\GAL4da.G32

      (Yoon et al., 2017)
      Comments

      The pupal lethality of the Nrd1W369X mutants can be rescued by combination with any of the following :Nrd1+t5, Nrd1+tCH322-77E05 or Dp(1;3)DC245 or by expression of Nrd1Scer\UAS.T:SV5\V5 (but not Nrd1Scer\UAS.T:Disc\RFP-mCherry) under the control of Scer\GAL4da.G32 in the mutant background.

      (Yoon et al., 2017)

      Rescued by: Dp(1;3)DC245.

      (Yamamoto et al., 2013-)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (6)
      Reported As
      Symbol Synonym
      CG2025A
      (Yamamoto et al., 2013-)
      Nrd1C
      (Yoon et al., 2017)
      Nrd1W369X
      (Graves et al., 2020)
      XE54A
      (Graves et al., 2020)
      XLSY020
      (Graves et al., 2020)
      dNrd1C
      (Yoon et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
      • FBal0324998
      • FBal0298885
      References (3)