FlyBase Allele Report: Dmel\Diap1[109.07]

General Information

Symbol

Dmel\Diap1^109.07

Species

D. melanogaster

Name

FlyBase ID

FBal0103518

Feature type

allele

Associated gene

Dmel\Diap1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Lisi et al., 2000)

Mutagen

ethyl methanesulfonate

(Moore et al., 1998)

Progenitor genotype

Cytology

Description

The premature stop codon is in the BIR1 domain.

(Lisi et al., 2000)

Amino acid replacement: W54term.

(Lisi et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:16,039,828..16,039,828 [-]

Nucleotide change:

G16039828A

Amino acid change:

Reported amino acid change:

W54term

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

increased cell death | recessive

(Kessler and Müller, 2009)

lethal | recessive

(Lisi et al., 2000)

Phenotype Manifest In

embryo

(Lisi et al., 2000, Moore et al., 1998)

Detailed Description

Statement

Reference

Cells in homozygous embryos show typical features of apoptosis, such as DNA fragmentation. All cells in gastrulating mutant embryos become TUNEL-positive, in contrast to wild-type embryos, where apoptosis is not detectable during gastrulation.

(Kessler and Müller, 2009)

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)

Embryos exhibit defects in cellularization.

(Moore et al., 1998)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Diap1^109.07 is an enhancer of abnormal cell death phenotype of hid^GMR.PG

(Lisi et al., 2000)

Diap1^109.07 is an enhancer of abnormal cell death phenotype of grim^GMR.PC

(Lisi et al., 2000)

Diap1^109.07 is an enhancer of abnormal cell death phenotype of rpr^GMR.PW

(Lisi et al., 2000)

Phenotype Manifest In

Enhancer of

Statement

Reference

Diap1^109.07 is an enhancer of eye phenotype of hid^GMR.PG

(Lisi et al., 2000)

Diap1^109.07 is an enhancer of eye phenotype of grim^GMR.PC

(Lisi et al., 2000)

Diap1^109.07 is an enhancer of eye phenotype of rpr^GMR.PW

(Lisi et al., 2000)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of arm^{D88A.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^{mat.αTub67C.T:Hsim\VP16} slightly delays the execution of apoptosis in th^109.07 embryos, but apoptosis is otherwise unimpaired in the double mutant embryos.

(Kessler and Müller, 2009)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

One of 6 th mutants isolated.

(Moore et al., 1998)

Shows slightly weaker ability to enhance rpr-killing than a deletion of the gene.

(Lisi et al., 2000)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Diap1^109.07

th109

(Yoo et al., 2002)

th109.07

(Yoo et al., 2002)

th^109.07

th¹⁰⁹

(Kessler and Müller, 2009)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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