FlyBase Allele Report: Dmel\rad50[Δ5.1]

General Information

Symbol

Dmel\rad50^Δ5.1

Species

D. melanogaster

Name

FlyBase ID

FBal0175539

Feature type

allele

Associated gene

Dmel\rad50

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

amorphic allele - genetic evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Ciapponi et al., 2004)

Mutagen

P-element activity

(Ciapponi et al., 2004)

Progenitor genotype

P{SUPor-P}KG02493

(Ciapponi et al., 2004)

Cytology

Description

Imprecise excision of the P{SUPor-P}KG02493 element resulting in a deletion of the 5' end of rad50.

(Ciapponi et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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

(Ciapponi et al., 2004)

increased cell death

(Ciapponi et al., 2004)

lethal - all die before end of pupal stage | recessive

(Ciapponi et al., 2004)

radiation sensitive

(Ciapponi et al., 2004)

some die during pupal stage | recessive

(Ciapponi et al., 2004)

Phenotype Manifest In

chaeta

(Ciapponi et al., 2004)

chromosome, telomeric region

(Ciapponi et al., 2006, Raffa et al., 2005, Ciapponi et al., 2004)

chromosome | third instar larval stage

(Merigliano et al., 2019)

condensed chromosome

(Ciapponi et al., 2006)

eye

(Ciapponi et al., 2004)

larval brain | third instar larval stage

(Merigliano et al., 2019)

mitosis & nuclear chromosome

(Ciapponi et al., 2004)

neuroblast | third instar larval stage

(Merigliano et al., 2019)

wing

(Ciapponi et al., 2004)

wing disc

(Ciapponi et al., 2004)

wing margin (with rad50^EP1)

(Ciapponi et al., 2004)

Detailed Description

Statement

Reference

rad50^Δ5.1 third instar larval brain neuroblasts show a small increase in the frequency of chromosomal aberrations, as compared to controls.

(Merigliano et al., 2019)

In rad50^Δ5.1 larval brains, the mean frequency of total telomeric associations seen in metaphases is 60.9%, with 14.1% being single telomeric associations (a single telomere is joined with either its sister telomere or another nonsister telomere) and 46.8% being double telomeric associations (a pair of sister telomeres are joined with another pair). 12.6% of metaphases have chromatid or isochromatid breaks. 5.1% of metaphase cells are polyploid or hyperploid.

(Ciapponi et al., 2006)

The brains of homozygous larvae show a high frequency of telomere-telomere attachments compared to controls. Single telomere attachments in which a single telomere fuses with its sister telomere, or in which a single telomere fuses with another single nonsister telomere are both seen. Double telomere attachments, where a pair of sister telomeres join with another pair are seen; both monocentric ring chromosomes and linear dicentric chromosomes are seen. In addition, multiple double telomere attachments, resulting in multicentric linear chromosomes, are also seen. The average number of telomere-telomere attachments per cell is 0.50.

(Raffa et al., 2005)

Homozygotes die close to the time of eclosion. 1-5% of mutants do eclose, but they only survive briefly as adults. Mutant pharate adults have rough eyes, scalloped wings and bristles are shorter than normal or missing. Wings discs of mutant third instar larvae show high levels of apoptosis compared to control discs. rad50^Δ5.1/rad50^EP1 adults have a scalloped wing margin. Mitotic neuroblasts from homozygous larval brains show a high frequency of telomere fusions and chromosome breaks. Single telomeric associations (in which a single telomere fuses with either its sister telomere or a single non-sister telomere) and double telomere associations are seen. Metaphases with rearranged chromosomes and hyperploid/polyploid cells are seen. Chromosome breaks involving either one or both sister chromatids are seen. Homozygous cells are at least one order of magnitude more sensitive than wild-type cells to the induction of chromosome breaks by irradiation.

(Ciapponi et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

rad50^Δ5.1 has larval brain | third instar larval stage phenotype, enhanceable by aurA⁹⁴⁹/aurA⁹⁴⁹

(Merigliano et al., 2019)

rad50^Δ5.1 has neuroblast | third instar larval stage phenotype, enhanceable by aurA⁹⁴⁹/aurA⁹⁴⁹

(Merigliano et al., 2019)

rad50^Δ5.1 has chromosome | third instar larval stage phenotype, enhanceable by aurA⁹⁴⁹/aurA⁹⁴⁹

(Merigliano et al., 2019)

rad50^Δ5.1 has chromosome, telomeric region phenotype, enhanceable by mei-41^29D

(Ciapponi et al., 2006)

rad50^Δ5.1 has condensed chromosome phenotype, enhanceable by mei-41^29D

(Ciapponi et al., 2006)

rad50^Δ5.1 has chromosome, telomeric region phenotype, enhanceable by nbs¹

(Ciapponi et al., 2006)

rad50^Δ5.1 has condensed chromosome phenotype, enhanceable by tefu^atm-6

(Ciapponi et al., 2006)

NOT Enhanced by

Statement

Reference

rad50^Δ5.1 has condensed chromosome phenotype, non-enhanceable by nbs¹

(Ciapponi et al., 2006)

rad50^Δ5.1 has chromosome, telomeric region phenotype, non-enhanceable by tefu^atm-6

(Ciapponi et al., 2006)

NOT suppressed by

Statement

Reference

rad50^Δ5.1 has chromosome, telomeric region phenotype, non-suppressible by tefu^atm-6

(Ciapponi et al., 2006)

rad50^Δ5.1 has condensed chromosome phenotype, non-suppressible by nbs¹

(Ciapponi et al., 2006)

Enhancer of

Statement

Reference

rad50^Δ5.1/rad50^Δ5.1 is an enhancer of larval brain | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

rad50^Δ5.1/rad50^Δ5.1 is an enhancer of neuroblast | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

rad50^Δ5.1/rad50^Δ5.1 is an enhancer of chromosome | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

rad50^Δ5.1 is an enhancer of chromosome, telomeric region phenotype of nbs¹

(Ciapponi et al., 2006)

rad50^Δ5.1 is an enhancer of condensed chromosome phenotype of tefu^atm-6

(Ciapponi et al., 2006)

rad50^Δ5.1 is an enhancer of chromosome, telomeric region phenotype of mei-41^29D

(Ciapponi et al., 2006)

rad50^Δ5.1 is an enhancer of condensed chromosome phenotype of mei-41^29D

(Ciapponi et al., 2006)

NOT Enhancer of

Statement

Reference

rad50^Δ5.1 is a non-enhancer of condensed chromosome phenotype of nbs¹

(Ciapponi et al., 2006)

rad50^Δ5.1 is a non-enhancer of chromosome, telomeric region phenotype of tefu^atm-6

(Ciapponi et al., 2006)

NOT Suppressor of

Statement

Reference

rad50^Δ5.1 is a non-suppressor of condensed chromosome phenotype of nbs¹

(Ciapponi et al., 2006)

rad50^Δ5.1 is a non-suppressor of chromosome, telomeric region phenotype of tefu^atm-6

(Ciapponi et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

rad50^Δ5.1 does not override the reduced mitotic index of sea^EP3364 single mutants.

(Morciano et al., 2009)

The frequency of total telomeric associations seen in metaphases of rad50^Δ5.1 tefu^atm-6 larval brains is not significantly different from that seen in each single mutant, while the frequency of chromosome breaks is significantly increased in the double mutants.

The frequency of total telomeric associations and the frequency of chromosome breaks seen in metaphases of mei-41^29D rad50^Δ5.1 larval brains is significantly increased compared that seen in each single mutant.

The frequency of total telomeric associations seen in metaphases of rad50^Δ5.1 nbs¹ larval brains is significantly increased compared that seen in each single mutant, while the frequency of chromosome breaks in the double mutant is not significantly different from that seen in each single mutant.

(Ciapponi et al., 2006)

rad50^Δ5.1 Df(2L)FCK-20/Df(2L)k07716-V.1 double mutant animals have similar frequencies of telomeric fusions and spontaneous chromosome breaks and show similar sensitivities to the induction of chromosome breaks by irradiation as either single mutant combination (rad50^Δ5.1 and Df(2L)FCK-20/Df(2L)k07716-V.1).

(Ciapponi et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

rad50^Δ5.1 is rescued by rad50^+tCa

(Ciapponi et al., 2004)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

rad50^Δ5.1

(Porrazzo et al., 2022, Merigliano et al., 2019, Cenci et al., 2015, Morciano et al., 2009, Ciapponi et al., 2006, Raffa et al., 2005)

Name Synonyms

Secondary FlyBase IDs

References (7)

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