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General Information
Symbol
Dmel\Nrd1R540X
Species
D. melanogaster
Name
FlyBase ID
FBal0324997
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

A11867063T

Amino acid change:

R540term | Nrd1-PA

Reported amino acid change:

R540term

Comment:

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

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: R540term.

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
Modifiers Based on Experimental Evidence ( 1 )
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.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Adult flies with Nrd1R540X 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.

Nrd1R540X mutant larvae do not show any significant decrease in the mitochondria copy number relative to controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Suppressed by
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

The loss of synaptic transmission in photoreceptor cells (characterized by loss of on- and off-transients in electroretinogram readings) observed in aged adult flies with Nrd1R540X mutant retinal somatic clones is partially suppressed by expression of Atg1Scer\UAS.cUa controlled by the Scer\GAL4ey.PU driver.

Xenogenetic Interactions
Statement
Reference

The pupal lethality of the Nrd1R540X 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.

Complementation and Rescue Data
Comments

The pupal lethality of the Nrd1R540X 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.

Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
Nrd1R540X
Name Synonyms
Secondary FlyBase IDs
    References (1)