FlyBase Allele Report: Dmel\tws[430]

General Information

Symbol

Dmel\tws⁴³⁰

Species

D. melanogaster

Name

FlyBase ID

FBal0277226

Feature type

allele

Associated gene

Dmel\tws

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Merigliano et al., 2017)

loss of function allele

(Kim et al., 2012)

Mutagen

ethyl methanesulfonate

(Merigliano et al., 2017)

Progenitor genotype

Cytology

Description

G to A mutation in the splice acceptor site of an intron shared by all tws transcripts. This is predicted to result in the first AG of exon 3 being used as a splicing site, producing a stop codon that would result in a truncated protein of 142 or 86 amino acids (for transcripts encoding the a or b protein isoform respectively).

(Merigliano et al., 2017)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:10,129,434..10,129,434 [-]

Nucleotide change:

G10129434A

Reported nucleotide change:

G?A

Comment:

Nucleotide substitution: AG changed to AA in the splice acceptor.

(Merigliano 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 ( 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

abnormal mitotic cell cycle | third instar larval stage

(Merigliano et al., 2017)

lethal - all die before end of larval stage

(Merigliano et al., 2017)

radiation sensitive | third instar larval stage

(Merigliano et al., 2017)

Phenotype Manifest In

Detailed Description

Statement

Reference

tws⁴³⁰/tws⁴³⁰, tws⁴³⁰/Df(3R)by62, tws⁴³⁰/tws^j11C8 and tws⁴³⁰/tws¹⁹⁶ third instar larval brains exhibit high frequencies of cells with chromosome aberrations (CABs, metaphases displaying from one to five CABs and metaphases with more than five CABs often showing an extensive chromosome fragmentation) compared to controls. Specifically they exhibit: chromatid and isochromatid deletions and exchanges of chromatid and chromosome type with acentric fragments. Most aberrations and exchanges are complete, namely they contain all the elements that give rise to the CAB.

Under normal conditions tws⁴³⁰/tws⁴³⁰ third instar larval brains exhibit an increase in the mitotic index with a lower total anaphase frequency compared to controls. Almost half of those anaphases are abnormal (containing chromatin bridges and lagging acentric chromosome fragments) compared to controls. After 10 Gy X-ray treatment, tws⁴³⁰/tws⁴³⁰ third instar larval brains fail to exhibit variations in the mitosis index over time compared to controls.

tws⁴³⁰/tws⁴³⁰ third instar larval brains exhibit an increase in the CAB frequency observed as a result of X ray and hydroxy urea treatments compared to controls. They don't exhibit any telomeric fusions under normal conditions similar to controls.

Under normal conditions tws⁴³⁰/tws⁴³⁰ third instar larval brains exhibit an increase in the average frequency of nuclei with γ-H2Av foci (indicative of double strand breaks) compared to controls. After 5 Gy X-ray treatment, in mutant and control brains, the frequency of nuclei with γ-H2Av-positive foci peaks at 5 minutes post irradiation (PIR) and remains high at 30 minutes PIR to progressively decrease at 1 and 2 hr PIR. At 4 and 6 hr PIR, the frequencies of nuclei with foci remain high in mutant brains while they drop in controls.

(Merigliano et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

grp⁰⁶⁰³⁴, tws⁴³⁰ has lethal - all die before end of larval stage phenotype

(Merigliano et al., 2017)

mei-41^29D, tws⁴³⁰ has lethal - all die before end of larval stage phenotype

(Merigliano et al., 2017)

DNAlig4⁵, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

Brca2^KG03961, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

okr^A19-10/okr^17-11, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

mus301^D4, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

Brca2^KO/Brca2^56E, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

His2Av⁸¹⁰, tws⁴³⁰ has lethal - all die before end of first instar larval stage phenotype

(Merigliano et al., 2017)

mei-9^A1, tws⁴³⁰ has lethal - all die before end of larval stage phenotype

(Merigliano et al., 2017)

nbs¹, tws⁴³⁰ has lethal - all die before end of larval stage phenotype

(Merigliano et al., 2017)

spn-A¹, tws⁴³⁰ has lethal - all die before end of larval stage phenotype

(Merigliano et al., 2017)

Irbp^EX8, tws⁴³⁰ has lethal - all die before end of larval stage phenotype

(Merigliano et al., 2017)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, non-enhanceable by mei-41^29D

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, non-enhanceable by mei-41^29D

(Merigliano et al., 2017)

Suppressed by

Statement

Reference

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible | partially by spn-A¹/spn-A¹

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible | partially by spn-A¹/spn-A¹

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible | partially by grp⁰⁶⁰³⁴

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible | partially by grp⁰⁶⁰³⁴

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible by Irbp^EX8/Irbp^EX8

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible by Irbp^EX8/Irbp^EX8

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible | partially by Irbp^{fTRG00107.sfGFP-TVPTBF}, Irbp^EX8/Irbp^EX8

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible | partially by Irbp^{fTRG00107.sfGFP-TVPTBF}, Irbp^EX8/Irbp^EX8

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^Act.PU/Irbp^KK101447

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^Act.PU/Irbp^KK101447

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible by tefu^atm-6/tefu^atm-6

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible by tefu^atm-6/tefu^atm-6

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible | partially by nbs¹/nbs¹

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible | partially by nbs¹/nbs¹

(Merigliano et al., 2017)

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, suppressible | partially by mei-9^A1/mei-9^A1

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, suppressible | partially by mei-9^A1/mei-9^A1

(Merigliano et al., 2017)

NOT suppressed by

Statement

Reference

tws⁴³⁰ has nuclear chromosome | third instar larval stage phenotype, non-suppressible by mei-41^29D

(Merigliano et al., 2017)

tws⁴³⁰ has larval brain | third instar larval stage phenotype, non-suppressible by mei-41^29D

(Merigliano et al., 2017)

Enhancer of

Statement

Reference

tws⁴³⁰/tws⁴³⁰ is an enhancer of nuclear chromosome | third instar larval stage phenotype of mei-9^A1

(Merigliano et al., 2017)

tws⁴³⁰/tws⁴³⁰ is an enhancer of larval brain | third instar larval stage phenotype of mei-9^A1

(Merigliano et al., 2017)

tws⁴³⁰/tws⁴³⁰ is an enhancer of nuclear chromosome | third instar larval stage phenotype of mei-41^29D

(Merigliano et al., 2017)

tws⁴³⁰/tws⁴³⁰ is an enhancer of larval brain | third instar larval stage phenotype of mei-41^29D

(Merigliano et al., 2017)

NOT Enhancer of

Statement

Reference

tws⁴³⁰/tws⁴³⁰ is a non-enhancer of nuclear chromosome | third instar larval stage phenotype of tefu^atm-6

(Merigliano et al., 2017)

tws⁴³⁰/tws⁴³⁰ is a non-enhancer of larval brain | third instar larval stage phenotype of tefu^atm-6

(Merigliano et al., 2017)

NOT Suppressor of

Statement

Reference

tws⁴³⁰/tws⁴³⁰ is a non-suppressor of nuclear chromosome | third instar larval stage phenotype of tefu^atm-6

(Merigliano et al., 2017)

tws⁴³⁰/tws⁴³⁰ is a non-suppressor of larval brain | third instar larval stage phenotype of tefu^atm-6

(Merigliano et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

tws⁴³⁰/tws⁴³⁰ enhances the increased frequency of cells with chromosome aberrations while it partially suppresses the telomeric fusions of nbs¹/nbs¹ third instar larval brains.

(Merigliano et al., 2017)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

twins⁴³⁰

(Kim et al., 2012)

tws⁴³⁰

(Merigliano et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close