FB2024_03 , released June 25, 2024
Allele: Dmel\Su(var)2051
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General Information
Symbol
Dmel\Su(var)2051
Species
D. melanogaster
Name
FlyBase ID
FBal0016503
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
Su(var)2-501, Su(var)205
Key Links
Genomic Maps

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

Point mutation in the splicing site leading to deletion of the domain important for its localisation in the nucleus and association with heterochromatin in salivary glands.

Nucleotide substitution: G?A. Mutation at the first nucleotide position of intron 4. Mutation leads to exon skipping.

Nucleotide substitution: G?A. Mutation at the first nucleotide of the last intron.

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

G8210352A

Reported nucleotide change:

G?A

Comment:

Mutation in the first nucleotide of intron 4. The mutation leads to exon skipping.

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

neuroblast & larval brain

Detailed Description
Statement
Reference

Neuroblasts in the brain of Su(var)2051/Su(var)2055 or Su(var)2054/Su(var)2051 larvae show a high frequency of abnormal metaphase configurations, including telomere-telomere fusions.

Homozygous embryos are found to be mostly devoid of intact nuclei. Any remaining nuclei have defects in chromosome segregation and abnormal morphology (chromatin bridges, chromosome lagging during anaphase and under- or over-condensed nuclei). Mitotic synchrony is lost in a high proportion of embryos and defective nuclei are seen beneath the normal plane of nuclei, they appear to be falling into the interior of the embryo.

Dominant suppression of heterochromatic position effect.

Dominant suppressor of position effect variegation at the w locus caused by In(1)wm4.

homozygous lethal triplo-enhancer homozygous lethal

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhancer of
Statement
Reference

Su(var)2051 is an enhancer of visible | dominant phenotype of N55e11, RpL15[+]/RpL1572

Su(var)205[+], E(Pc)[+], Su(var)2051, E(Pc)unspecified is an enhancer of abnormal eye color phenotype of lt1/lt11

Su(var)208[+], Su(var)208unspecified, Su(var)205[+], Su(var)2051 is an enhancer of abnormal eye color phenotype of lt1/lt11

Other
Phenotype Manifest In
Enhancer of
Statement
Reference

Su(var)2051 is an enhancer of wing margin phenotype of N55e11, RpL15[+]/RpL1572

Su(var)205[+], E(Pc)[+], Su(var)2051, E(Pc)unspecified is an enhancer of pigment cell phenotype of lt1/lt11

Su(var)208[+], Su(var)208unspecified, Su(var)205[+], Su(var)2051 is an enhancer of pigment cell phenotype of lt1/lt11

Additional Comments
Genetic Interactions
Statement
Reference

13% of RpL1572/In(3L)C90 males and 60% of RpL1572/In(3L)C90 females have a mutant posterior wing margin phenotype. The penetrance of this phenotype is increased to 100% if the flies are also carrying Su(var)2051/+. 13% of RpL153/In(3L)C90 females have a mutant posterior wing margin phenotype. The penetrance of this phenotype is increased to 81% if the females are also carrying Su(var)2051/+. RpL1572/+ slightly enhances the weak wing margin phenotype of N55e11/+. The effect of RpL1572 on N55e11 is further enhanced if the flies also carry Su(var)2051.

Eye pigmentation in lt11/lt1 flies is reduced if the flies are also carrying E(Pc)unspecified/Su(var)2051 or Su(var)208unspecified/Su(var)2051. lt11/lt1; Su(var)2-1v9/Su(var)2051 flies have reduced viability. Viability is partially restored in XO males. lt11/lt1; Su(var)208unspecified/Su(var)2051 flies have reduced viability. Viability is restored in XO males.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
Comments
Comments

The presence of Su(var)2051 suppresses position effect variegation (PEV) of lines with insertions in centromeric regions or in the fourth chromosome. Insertions near the telomeres 2L, 2R or 3R show no suppression.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (10)
References (18)