FlyBase Allele Report: Dmel\tefu[atm-6]

General Information

Symbol

Dmel\tefu^atm-6

Species

D. melanogaster

Name

FlyBase ID

FBal0175412

Feature type

allele

Associated gene

Dmel\tefu

Associated Insertion(s)

Carried in Construct

Also Known As

tefu^atm6, atm⁶

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Wells et al., 2006)

Mutagen

ethyl methanesulfonate

(Silva et al., 2004)

Progenitor genotype

Cytology

Description

Amino acid replacement: W977term.

(Silva et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:15,237,420..15,237,420 [-]

Nucleotide change:

G15237420A

Amino acid change:

W1315term | tefu-PB

Reported amino acid change:

W977term

Comment:

The difference between the annotated and the reported site of the amino acid change is due to the authors description of a 2429 residue protein, compared to the currently annotated 2767 residue polypeptide. Position of mutation on reference sequence inferred by FlyBase curator.

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation. (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. The reported amino acid change of W977@ was relative to an earlier version of the annotation. Residue 977 in the earlier annotation now maps to residue 1315.

(Pedersen et al., 2010, Silva et al., 2004)

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 ( 1 )

Disease

Evidence

References

model of ataxia telangiectasia

CEA

(Silva et al., 2004)

CEA with tefu^atm-3

(Silva et al., 2004)

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

anaphase & condensed nuclear chromosome (with tefu^atm-3)

(Silva et al., 2004)

antenna | P-stage

(Silva et al., 2004)

chaeta | P-stage

(Silva et al., 2004)

chromosome, telomeric region

(Komonyi et al., 2009, Ciapponi et al., 2006, Raffa et al., 2005)

chromosome, telomeric region (with tefu^atm-3)

(Silva et al., 2004)

chromosome | larval stage

(Cenci et al., 2015)

cleavage nucleus | germline clone | maternal effect

(Silva et al., 2004)

condensed chromosome

(Ciapponi et al., 2006)

dorsal appendage | germline clone | maternal effect

(Silva et al., 2004)

egg chorion | germline clone | maternal effect

(Silva et al., 2004)

embryonic/larval brain | third instar larval stage

(Merigliano et al., 2017)

eye | P-stage

(Silva et al., 2004)

larval neuroblast

(Cenci et al., 2015)

leg | P-stage

(Silva et al., 2004)

metaphase & condensed nuclear chromosome (with tefu^atm-3)

(Silva et al., 2004)

mitosis & nuclear chromosome | maternal effect | germ-line clone

(Silva et al., 2004)

nuclear chromosome | third instar larval stage

(Merigliano et al., 2017)

nucleus | third instar larval stage

(Merigliano et al., 2017)

spindle | germline clone | maternal effect

(Silva et al., 2004)

wing | P-stage

(Silva et al., 2004)

Detailed Description

Statement

Reference

tefu^atm-6 third instar larval brain neuroblasts do not exhibit significant chromosomal aberrations, as compared to controls.

(Merigliano et al., 2019)

After 5 Gy X-ray treatment tefu^atm-6 third instar larval brains exhibit a significantly lower frequency of nuclei with γ-H2Av foci (indicative of double strand breaks) compared to controls.

Under normal conditions tefu^atm-6/tefu^atm-6 third instar larval brains exhibit higher frequency of cells with chromosome aberrations (CABs) and telomeric fusions than controls, and they are more sensitive to X ray induced CABs than controls.

After 10 Gy X-ray treatment, tefu^atm-6 third instar larval brains fail to exhibit variations in the mitosis index over time compared to controls.

(Merigliano et al., 2017)

In tefu^atm-6 homozygous larvae, neuroblasts exhibit telomeric fusions, particularly in autosomes.

(Cenci et al., 2015)

tefu^ZIII-5190/tefu^atm-6 females do not produce viable offspring.

(Morciano et al., 2013)

tefu^atm-6 mutant neuroblasts show frequent telomere associations (anaphase chromosome bridges).

(Komonyi et al., 2009)

In tefu^atm-6 larval brains, the mean frequency of total telomeric associations seen in metaphases is 65.8%, with 10.9% being single telomeric associations (a single telomere is joined with either its sister telomere or another nonsister telomere) and 54.9% being double telomeric associations (a pair of sister telomeres are joined with another pair). 13.4% of metaphases have chromatid or isochromatid breaks. 4.6% of metaphase cells are polyploid or hyperploid.

Mutants treated with 1Gy of X rays show approximately 4-fold more chromosome breaks than wild-type controls.

(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 0.61.

(Raffa et al., 2005)

Homozygous pupae have variable morphological defects affecting the antennae, eyes, bristles, wings and legs. Eggs derived from females carrying homozygous germline clones often have dorsal appendage defects and the eggshells appear thinner than normal. The developing embryos have dramatic defects in mitosis during the early syncytial divisions. These defects include frequent spindle fusions and chromosomal bridges. Nuclei also detach from the centrosomes and fall into the cortex. tefu^atm-3/tefu^atm-6 larval neuroblasts show an extremely high rate of spontaneous chromosomal aberrations. The most frequent defects are telomere fusions (seen in more than 50% of metaphase figures). Both single- and double-telomere associations are seen, including sister and nonsister fusions of homologous chromosomes, as well as fusions between nonhomologous chromosomes. Acentric chromosome fragments are occasionally seen, as are chromosomal transpositions involving the loss of whole chromosome arms. Chromosomal bridges are often seen in anaphase figures.

(Silva et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

tefu^atm-6 has lethal - all die before end of P-stage phenotype, enhanceable by moi^um.t4.6/Df(3R)d189/moi^S096713

(Komonyi et al., 2009)

Enhancer of

Statement

Reference

tefu[+], tefu^atm-6, Scer\GAL4^ey.PH is an enhancer of visible phenotype of Scer\GAL4^ey.PH, Tctp^RNAi.UAS

(Hong and Choi, 2013)

tefu^atm-6 is an enhancer of short lived phenotype of Df(3R)d189/moi^S096713, moi^um.t4.6

(Komonyi et al., 2009)

NOT Suppressor of

Statement

Reference

tefu^atm-6 is a non-suppressor of increased cell number | larval stage phenotype of BacA\p35^UAS.cHa, Scer\GAL4^hh-Gal4, hid^UAS.cYa

(Wells et al., 2006)

Phenotype Manifest In

Enhanced by

Statement

Reference

tefu^atm-6 has FlyBase_internalproperty type:chromosome:chromosome phenotype, enhanceable by moi^um.t4.6/Df(3R)d189/moi^S096713

(Komonyi et al., 2009)

tefu^atm-6 has FlyBase_internalproperty type:chromosome:chromosome phenotype, enhanceable by moi^um.t4.6/Df(3R)d189/Df(3R)d192

(Komonyi et al., 2009)

tefu^atm-6 has chromosome, telomeric region phenotype, enhanceable by nbs¹

(Ciapponi et al., 2006)

tefu^atm-6 has condensed chromosome phenotype, enhanceable by nbs¹

(Ciapponi et al., 2006)

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

(Ciapponi et al., 2006)

tefu^atm-6 has chromosome, telomeric region phenotype, enhanceable by mei-41^29D

(Ciapponi et al., 2006)

NOT Enhanced by

Statement

Reference

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

(Merigliano et al., 2017)

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

(Merigliano et al., 2017)

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

(Ciapponi et al., 2006)

NOT suppressed by

Statement

Reference

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

(Merigliano et al., 2017)

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

(Merigliano et al., 2017)

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

(Ciapponi et al., 2006)

Enhancer of

Statement

Reference

tefu[+], tefu^atm-6, Scer\GAL4^ey.PH is an enhancer of eye phenotype of Scer\GAL4^ey.PH, Tctp^RNAi.UAS

(Hong and Choi, 2013)

tefu^atm-6 is an enhancer of FlyBase_internalproperty type:chromosome:chromosome phenotype of Df(3R)d189/moi^S096713, moi^um.t4.6

(Komonyi et al., 2009)

tefu^atm-6 is an enhancer of FlyBase_internalproperty type:chromosome:chromosome phenotype of Df(3R)d189/Df(3R)d192, moi^um.t4.6

(Komonyi et al., 2009)

tefu^atm-6 is an enhancer of chromosome, telomeric region phenotype of nbs¹

(Ciapponi et al., 2006)

tefu^atm-6 is an enhancer of condensed chromosome phenotype of nbs¹

(Ciapponi et al., 2006)

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

(Ciapponi et al., 2006)

tefu^atm-6 is an enhancer of chromosome, telomeric region phenotype of mei-41^29D

(Ciapponi et al., 2006)

NOT Enhancer of

Statement

Reference

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

(Ciapponi et al., 2006)

Suppressor of

Statement

Reference

tefu^atm-6/tefu^atm-6 is a suppressor of embryonic/larval brain | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

tefu^atm-6/tefu^atm-6 is a suppressor of neuroblast | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

tefu^atm-6/tefu^atm-6 is a suppressor of FlyBase_internalproperty type:chromosome:chromosome | third instar larval stage phenotype of aurA⁹⁴⁹

(Merigliano et al., 2019)

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

(Merigliano et al., 2017)

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

(Merigliano et al., 2017)

NOT Suppressor of

Statement

Reference

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

(Ciapponi et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

The small eye phenotype caused by expression of Tctp^{dsRNA.Scer\UAS} under the control of Scer\GAL4^ey.PH is enhanced if the flies are heterozygous for tefu^atm-6.

(Hong and Choi, 2013)

tefu^atm-6 flies that also carry P{lacW}moi^S096713/Df(3R)d189, P{CaSpeR-DTLu^m} (i.e. moi mutants) die at an earlier phase than either single mutant condition.

tefu^atm-6 neuroblasts that also carry P{lacW}moi^S096713/Df(3R)d189, P{CaSpeR-DTLu^m} (i.e. moi mutants) show an increased number of anaphase chromosome bridges than either single mutant condition.

tefu^atm-6 neuroblasts that also carry Df(3R)d192/Df(3R)d189, P{CaSpeR-DTLu^m} (i.e. moi mutants) show an increased number of anaphase chromosome bridges than either single mutant condition.

(Komonyi 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 nbs¹ tefu^atm-6 larval brains is significantly increased compared that seen in each single mutant.

The frequency of total telomeric associations seen in metaphases of mei-41^29D tefu^atm-6 larval brains is significantly increased compared that seen in each single mutant.

(Ciapponi et al., 2006)

Xenogenetic Interactions

Statement

Reference

A tefu^atm-6 mutant background cannot alleviate the overgrowth or anterior cell cycle arrest of wing discs with posterior 'undead' Scer\GAL4^hh-Gal4>W^Scer\UAS.cYa, BacA\p35^Scer\UAS.cHa cells.

(Wells et al., 2006)

Complementation and Rescue Data

Rescued by

tefu^ZIII-5190/tefu^atm-6 is rescued by tefu^+t14.5

(Morciano et al., 2013)

Comments

tefu^+t14.5 rescues the inability of tefu^ZIII-5190/tefu^atm-6 females to produce viable offspring.

(Morciano et al., 2013)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

8626

w^*; P{neoFRT}82B tefu^atm-6 e¹/TM6B, Tb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

atm⁶

(Hong and Choi, 2016, Hong and Choi, 2013, Morciano et al., 2013, Wells et al., 2006, Raffa et al., 2005, Silva et al., 2004)

tefu^atm-6

(Li et al., 2021)

tefu^atm6

(Porrazzo et al., 2022, Merigliano et al., 2019, Merigliano et al., 2017, Cenci et al., 2015, Komonyi et al., 2009, Morciano et al., 2009, Ciapponi et al., 2006)

Name Synonyms

Secondary FlyBase IDs

References (14)

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