FB2024_03 , released June 25, 2024
Allele: Dmel\PCNA2735
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General Information
Symbol
Dmel\PCNA2735
Species
D. melanogaster
Name
FlyBase ID
FBal0039662
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

Amino acid replacement: V195E. The identified nucleotide substitutions are probably strain-specific polymorphisms. Nucleotide substitution: G52A. Nucleotide substitution: A216T. Nucleotide substitution: T253C. Nucleotide substitution: C317T. Nucleotide substitution: T329C. Nucleotide substitution: A542G.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

T20262078A

Amino acid change:

V195E | PCNA-PA; V195E | PCNA-PB

Reported amino acid change:

V195E

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. Other polymorphisms present in strain but are unlikely to be cause of mutant phenotype.

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

mus209B1/mus2092735 mutants have a similar frequency of single-strand annealing repair (SSA) compared to controls in a P{wIw.FRT} hemizygous assay to study DNA double-stranded break repair when assayed at 32oC or 38oC.

Homozygotes are viable at 22oC, but die as pupae at 29oC. Homozygous females (raised at the permissive temperature) do not produce eggs. Homozygous ovaries are small and poorly developed. They are partitioned into ovarioles, but these are rudimentary and devoid of late stage egg chambers, containing only stem cells and early stage egg chambers. Homozygous females have a defect in DNA double strand break (DSB) repair. mus209B1/mus2092735 females are partially fertile. Ovaries from these females develop further than either of their homozygous mutant counterparts, but still show developmental defects. These can include defects in follicle cell proliferation or migration and egg chambers that contain approximately double the normal number of nurse cells. Some egg chambers appear normal. The syncytial embryos derived from these females show a range of defects. 10-20% appear wild type. Others show varying degrees of abnormality in distribution of the nuclei. Embryos with highly irregular nuclei often appeared to be arrested in cell cycle progression, while in others aberrant nuclear division leads to nuclear "fallout" from the cortex. The overall level of recombination on chromosome 2 is reduced in mus209B1/mus2092735 females compared to wild type, but only marginally so. The proportion of distal exchange events is reduced, while the proportion of centromere-proximal exchanges is actually increased.

Heterozygotes with mus209B1 are lethal at 29oC.

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
Partially complements
Comments

mus209B1 and mus2092735 partially complement each other for the female sterility and DNA double strand break repair defect seen in each homozygote.

complementing

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
Reported As
Symbol Synonym
PCNA2735
l(2)2735
l(2)56Fa5
mus2092735
Name Synonyms
Secondary FlyBase IDs
  • FBal0009108
References (5)