FlyBase Allele Report: Dmel\Diap1[5]

General Information

Symbol

Dmel\Diap1⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0050595

Feature type

allele

Associated gene

Dmel\Diap1

Associated Insertion(s)

Carried in Construct

Also Known As

th⁵, th5, diap1^th5

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(Lisi et al., 2000, Wang et al., 1999)

Mutagen

Progenitor genotype

Cytology

Description

Mutation is within the second BIR domain.

(Goyal et al., 2000)

Amino acid replacement: W273term.

(Goyal et al., 2000, Lisi et al., 2000)

The premature stop codon is near the middle of the second BIR domain.

(Lisi et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:16,039,171..16,039,171 [-]

Nucleotide change:

G16039171A

Amino acid change:

Reported amino acid change:

W273term

Comment:

G to A nucleotide change at the second or third position of the wild type Trp codon leads to a nonsense mutation (exact site of mutation unspecified). The mutation was annotated at the second base of the codon.

(Lisi et al., 2000)

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 cell death | recessive

(Wang et al., 1999)

increased cell death

(Quinn et al., 2003, Rodriguez et al., 2002)

lethal | recessive

(Goyal et al., 2000, Lisi et al., 2000)

lethal - all die during embryonic stage

(Wang et al., 1999)

some die during embryonic stage

(Wang et al., 1999)

viable (with Diap1^21-2s)

(Geisbrecht and Montell, 2004)

Phenotype Manifest In

Detailed Description

Statement

Reference

th⁵/+ flies show near normal eye phenotype.

(Arya et al., 2010)

14% of th⁵/th^21-2s egg chambers have border follicle cell migration defects, 25% have extra follicle cells and 3% have more than 15 nurse cells. 3% of th⁵/th^21-2s egg chambers show polarity defects. Homozygous follicle cells clones result in border follicle cell migration defects.

(Geisbrecht and Montell, 2004)

th⁵ homozygotes progress normally through gastrulation but arrest at the beginning of germ band extension, and within 90 min thereafter, adopt a characteristic morphology reflecting catastrophic events associated with widespread and synchronous apoptosis and arrest at stage 7.

(Rodriguez et al., 2002)

Heterozygotes are phenotypically wild type.

(Hawkins et al., 2000)

Embryos show increased cell death as assessed by TUNEL staining. The onset of this apoptosis appears several hours after development arrests.

(Lisi et al., 2000)

Epidermis of embryos does not form a cuticle. Homozygotes and hemizygotes undergo normal cellularization and initial gastrulation. During germ band extension all morphogenetic movements cease, cells adopt a rounded morphology (suggesting disruption if intercellular adhesion) and the yolk cell fragments and moves to the surface of the embryo. Cephalic furrow regresses. Surface of cells contain blebs and vesicular fragments characteristic of dying cells. Embryos show a significant increase in TUNEL-positive cells, but no significant change in acridine orange staining. Double mutants with Df(3L)H99 show a phenotype indistinguishable from that of th⁵ mutants alone.

(Wang et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Diap1⁵/th[+], Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.PU has visible phenotype, suppressible | partially by Hsp60D^RNAi.Sym.UAS, Scer\GAL4^GMR.PU

(Arya et al., 2010)

Diap1⁵ has increased cell death phenotype, suppressible by Buffy^UAS.cQa/Scer\GAL4^GMR.PF

(Quinn et al., 2003)

Diap1⁵/th[+], grim^GMR.PC has increased cell death phenotype, suppressible by Dark^CD4

(Rodriguez et al., 2002)

Diap1⁵/th[+], hid^GMR.PG has increased cell death phenotype, suppressible by Dark^CD4

(Rodriguez et al., 2002)

Diap1⁵ has increased cell death phenotype, suppressible by Dark^CD4

(Rodriguez et al., 2002)

NOT suppressed by

Statement

Reference

Diap1⁵/th[+], Scer\GAL4^GMR.PU, Zzzz\CAG^{127Q.UAS.Tag:HA} has visible phenotype, non-suppressible by Hsp60D^RNAi.Sym.UAS, Scer\GAL4^GMR.PU

(Arya et al., 2010)

Enhancer of

Statement

Reference

Diap1⁵/th[+] is an enhancer of visible phenotype of Scer\GAL4^GMR.PU, Zzzz\CAG^{127Q.UAS.Tag:HA}

(Arya et al., 2010)

Diap1⁵/th[+] is an enhancer of visible phenotype of Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.PU

(Arya et al., 2010)

Diap1⁵ is an enhancer of increased cell death phenotype of shtd¹

(Tanaka-Matakatsu et al., 2007)

Diap1⁵/th[+] is an enhancer of visible phenotype of Dronc^GMR.PH

(Hawkins et al., 2000)

Diap1⁵ is an enhancer of abnormal cell death phenotype of rpr^GMR.PW

(Lisi et al., 2000)

Diap1⁵ is an enhancer of abnormal cell death phenotype of hid^GMR.PG

(Lisi et al., 2000)

Diap1⁵ is an enhancer of abnormal cell death phenotype of grim^GMR.PC

(Lisi et al., 2000)

Diap1⁵ is an enhancer of lethal phenotype of Dronc^UAS.EGFP, Scer\GAL4^GMR.PF

(Quinn et al., 2000)

Diap1⁵ is an enhancer of visible phenotype of Dronc^UAS.EGFP, Scer\GAL4^GMR.PF

(Quinn et al., 2000)

Other

Statement

Reference

Diap1⁵/th[+], hid^GMR.PG has increased cell death phenotype

(Rodriguez et al., 2002)

Diap1⁵/th[+], grim^GMR.PC has increased cell death phenotype

(Rodriguez et al., 2002)

Diap1⁵, hid^GMR.PG has increased cell death phenotype

(Rodriguez et al., 2002)

Diap1⁵, grim^GMR.PC has increased cell death phenotype

(Rodriguez et al., 2002)

Phenotype Manifest In

Suppressed by

Statement

Reference

Diap1⁵/th[+], Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.PU has ommatidium phenotype, suppressible | partially by Hsp60D^RNAi.Sym.UAS, Scer\GAL4^GMR.PU

(Arya et al., 2010)

Diap1⁵ has phenotype, suppressible by Scer\GAL4^{VP16.mat.αTub67C}/BacA\p35^UAS.cHa

(Yoo et al., 2002)

NOT suppressed by

Statement

Reference

Diap1⁵/th[+], Scer\GAL4^GMR.PU, Zzzz\CAG^{127Q.UAS.Tag:HA} has ommatidium phenotype, non-suppressible by Hsp60D^RNAi.Sym.UAS, Scer\GAL4^GMR.PU

(Arya et al., 2010)

Enhancer of

Statement

Reference

Diap1⁵/th[+] is an enhancer of ommatidium phenotype of Scer\GAL4^GMR.PU, Zzzz\CAG^{127Q.UAS.Tag:HA}

(Arya et al., 2010)

Diap1⁵/th[+] is an enhancer of ommatidium phenotype of Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.PU

(Arya et al., 2010)

Diap1⁵ is an enhancer of eye phenotype of Scer\GAL4^hs.2sev, mbl^C.UAS

(Vicente-Crespo et al., 2008)

Diap1⁵ is an enhancer of eye phenotype of shtd¹

(Tanaka-Matakatsu et al., 2007)

Diap1⁵ is an enhancer of ommatidium phenotype of shtd¹

(Tanaka-Matakatsu et al., 2007)

Diap1⁵/th[+] is an enhancer of border follicle cell phenotype of chic⁰¹³²⁰/chic^k13321

(Geisbrecht and Montell, 2004)

Diap1⁵/th[+] is an enhancer of border follicle cell phenotype of chic⁰¹³²⁰/chic²²¹

(Geisbrecht and Montell, 2004)

Diap1⁵ is an enhancer of phenotype of rpr^GMR.PW

(Goyal et al., 2000)

Diap1⁵ is an enhancer of phenotype of hid^GMR.PG

(Goyal et al., 2000)

Diap1⁵/th[+] is an enhancer of eye phenotype of Dronc^GMR.PH

(Hawkins et al., 2000)

Diap1⁵ is an enhancer of eye phenotype of rpr^GMR.PW

(Lisi et al., 2000)

Diap1⁵ is an enhancer of eye phenotype of grim^GMR.PC

(Lisi et al., 2000)

Diap1⁵ is an enhancer of eye phenotype of hid^GMR.PG

(Lisi et al., 2000, Hay et al., 1995)

Diap1⁵ is an enhancer of eye phenotype of Dronc^UAS.EGFP, Scer\GAL4^GMR.PF

(Quinn et al., 2000)

Diap1⁵ is an enhancer of eye phenotype of rpr^GMR.PH

(Hay et al., 1995)

Suppressor of

Statement

Reference

Diap1⁵/th[+] is a suppressor of pigment cell | increased number phenotype of morgue^unspecified

(Hays et al., 2002)

Additional Comments

Genetic Interactions

Statement

Reference

A th⁵ mutant background enhances the moderately rough eye phenotype observed upon expression of mbl^C.Scer\UAS under the control of Scer\GAL4^hs.2sev.

(Vicente-Crespo et al., 2008)

80% of chic⁰¹³²⁰/chic^k13321 ; th⁵/+ egg chambers have border follicle cell migration defects. 77% of chic⁰¹³²⁰/chic²²¹ ; th⁵/+ egg chambers have border follicle cell migration defects.

(Geisbrecht and Montell, 2004)

The addition of W^GMR.PG to th⁵ heterozygotes leads to an enhancement of cell killing. The subsequent addition of Ark^CD4/Ark^CD4 suppresses that enhancement. The developmental arrest phenotype is also suppressed, embryos developing through stage 10. In about 5% of cases although no cell death is seen, arrest at stage 7 is still seen.

(Rodriguez et al., 2002)

Homozygous th⁵ embryos that express BacA\p35^Scer\UAS.cHa under the control of Scer\GAL4^{mat.αTub67C.T:Hsim\VP16} undergo normal morphogenesis until stage 11, after which massive cell death resumes.

(Yoo et al., 2002)

Addition of this allele strongly enhances the phenotype seen in rpr^GMR.PW and W^GMR.PG flies.

(Goyal et al., 2000)

Flies expressing intermediate levels of Nc^GMR.PH and also heterozygous for th⁵ have small eyes.

(Hawkins et al., 2000)

Xenogenetic Interactions

Statement

Reference

The Hsp60D^{dsRNA.Sym.Scer\UAS}-mediated suppression of the eye degeneration phenotype caused by Hsap\MJD^{tr.Q78.Scer\UAS.T:Ivir\HA1} overexpression via Scer\GAL4^GMR.PU is not much affected by heterozygosity for th⁵.

The enhancement of the eye degeneration resulting from the overexpression of Zzzz\CAG^{127Q.Scer\UAS.T:Ivir\HA1} via Scer\GAL4^GMR.PU in a th⁵/+ background is not suppressed when Hsp60D^{dsRNA.Sym.Scer\UAS} is co-expressed.

Heterozygosity for th⁵ enhances the eye degeneration resulting from the overexpression of Hsap\MJD^{tr.Q78.Scer\UAS.T:Ivir\HA1} via Scer\GAL4^GMR.PU.

Heterozygosity for th⁵ enhances the eye degeneration resulting from the overexpression of Zzzz\CAG^{127Q.Scer\UAS.T:Ivir\HA1} via Scer\GAL4^GMR.PU.

(Arya et al., 2010)

(Yoo et al., 2002)

Complementation and Rescue Data

Fails to complement

Diap1⁸

(Rodriguez et al., 2002)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

grim^GMR.PC-induced apoptosis is enhanced by th⁵ to a slightly greater extent than by a deletion of th suggesting that a single complete BIR may have slight dominant negative properties.

(Lisi et al., 2000)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Diap1⁵

(Rodriguez et al., 2002)

diap1⁵

(Kamber Kaya et al., 2017, Xu et al., 2006)

diap1^th5

(Zhou et al., 2021, Ryoo et al., 2004)

th5

(Hay et al., 2004, Hays et al., 2002, Yoo et al., 2002)

th⁵

(Arya et al., 2010, Vicente-Crespo et al., 2008, Tanaka-Matakatsu et al., 2007)

Name Synonyms

Secondary FlyBase IDs

References (19)

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