FB2024_03 , released June 25, 2024
Allele: Dmel\nbsEY15506
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General Information
Symbol
Dmel\nbsEY15506
Species
D. melanogaster
Name
FlyBase ID
FBal0178690
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Associated Insertion(s)
Cytology
Description

Insertion in the second exon, within coding sequences. Transcription in this mutant initiates within the P-element, just downstream of the 3' end of the w sequences. Translation is predicted to begin at the last three nucleotides of P-element sequence and continue in-frame into nbs sequences. In the predicted translation product, the first residue of the first BRCT domain is changed from Leu to Met, but the domain is otherwise intact. The nbs N-terminal FHA domain is missing in this product as the insertion occurs downstream of the sequence coding this domain.

Allele components
Component
Use(s)
Mutations Mapped to the Genome
Curation Data
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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

nbs1/nbsEY15506 larvae are hypersensitive to gamma irradiation compared to controls. Homozygous larvae are also sensitive to gamma irradiation compared to controls, but are significantly less sensitive than nbs1/nbsEY15506 larvae at doses higher than 500 rads.

Homozygotes have a normal G2/M DNA damage-dependent cell cycle checkpoint induced by irradiation at high-dose (4000 rads). At low-dose irradiation (1000 rads) the checkpoint is significantly reduced compared to wild type.

nbs1/nbsEY15506 larvae show loss of the G2/M DNA damage-dependent cell cycle checkpoint at low-dose irradiation (1000 rads) and a significant weakening of the checkpoint at high-dose irradiation (4000 rads).

External Data
Interactions
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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 (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
nbsEY15506
Name Synonyms
Secondary FlyBase IDs
    References (2)