FlyBase Allele Report: Dmel\stops[1]

General Information

Symbol

Dmel\stops¹

Species

D. melanogaster

Name

FlyBase ID

FBal0213180

Feature type

allele

Associated gene

Dmel\stops

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

(Wang et al., 2008)

Progenitor genotype

Cytology

Description

Nucleotide substitution: G?A.

(Wang et al., 2008)

Amino acid replacement: W92term.

(Wang et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:31,167,370..31,167,370 [-]

Nucleotide change:

G31167370A

Reported nucleotide change:

G?A

Amino acid change:

W168term | stops-PA; W92term | stops-PB; W92term | stops-PC

Reported amino acid change:

W92term

Comment:

TGG to TAG mutation in codon Trp92.

(Wang 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

abnormal auditory perception | adult stage

(Senthilan et al., 2012)

abnormal neurophysiology

(Wang et al., 2008)

abnormal neurophysiology (with stops^KG09937)

(Wang et al., 2008)

abnormal neurophysiology | somatic clone

(Wang et al., 2008)

Phenotype Manifest In

eye photoreceptor cell

(Wang et al., 2008)

Detailed Description

Statement

Reference

Sound-evoked compound action potentials in the antennal nerve are not significantly different from wild type in mutant flies. However, nonlinear mechanical amplification is significantly reduced compared to wild type.

(Senthilan et al., 2012)

Mutant flies have an abnormal electroretinogram (ERG); the amplitude of the ERG is normal, but there is slower termination of the light response compared to wild type. The slow termination of the light response is also seen in intracellular recordings of single photoreceptor cells.

Mosaic animals in which the eyes are homozygous for stops¹ in an otherwise heterozygous background also display a slow ERG termination phenotype, indicating that stops⁺ function is required in the eye.

stops¹/stops^KG09937 flies have an abnormal electroretinogram (ERG); there is slower termination of the light response compared to wild type.

(Wang et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT suppressed by

Statement

Reference

stops¹ has abnormal neurophysiology | somatic clone phenotype, non-suppressible by EloB^EY04022

(Wang et al., 2008)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

The abnormal electroretinogram phenotype seen in mosaic animals in which the eyes are homozygous for stops¹ flies in an otherwise heterozygous background is not suppressed if the eyes are also homozygous for Elongin-B^EY04022.

Calx^B stops¹ double mutant flies show the slow electroretinogram termination phenotype seen in stops¹ single mutants.

(Wang et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

stops^KG09937

(Wang et al., 2008)

Rescued by

stops¹ is rescued by stops^+tWa

(Wang et al., 2008)