FlyBase Allele Report: Dmel\out[2]

General Information

Symbol

Dmel\out²

Species

D. melanogaster

Name

FlyBase ID

FBal0141003

Feature type

allele

Associated gene

Dmel\out

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Coffman et al., 2002)

Progenitor genotype

Cytology

Description

Amino acid replacement: W225term.

(Yamada et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:19,312,848..19,312,848 [-]

Nucleotide change:

G19312848A

Amino acid change:

W225term | out-PA; W225term | out-PB

Reported amino acid change:

W225term

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.

(Yamada et al., 2008)

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

viable

(Coffman et al., 2002)

Phenotype Manifest In

germline cell

(Coffman et al., 2002)

primordial germ cell

(Yamada et al., 2008)

Detailed Description

Statement

Reference

Programmed cell death of primordial germ cells (PGCs), which is essentially complete by stage 12 of embryogenesis in wild type, is disrupted in mutant embryos; the total average number of PGCs is normal in the mutants at stage 10, but although there is a gradual reduction in the number of PGCs, it is decreased compared to wild type, such that at stage 14 the average number of PGCs is higher in the mutant embryos compared to wild type.

Although PGCs are able to incorporate into the gonad in mutant embryos, many germ cells ectopic to the gonad are seen at stage 14.

(Yamada et al., 2008)

Homozygous and hemizygous embryos show defects in germ cell development; many cells expressing a germ cell marker are seen outside the gonad, persisting until at least 15 hours of development.

(Coffman et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressed by

Statement

Reference

out² has primordial germ cell phenotype, suppressible | partially by Scer\GAL4^{VP16.nanos.UTR}/p53^UAS.Ex

(Yamada et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

The defective programmed cell death of the primordial germ cells (PGCs) see in out¹ homozygous embryos is partially rescued by expression of p53^Scer\UAS.Ex under the control of Scer\GAL4^{nos.UTR.T:Hsim\VP16}.

(Yamada et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Complements

out⁶

(Coffman et al., 2002)

Fails to complement

out¹

(Coffman et al., 2002)

out³