FlyBase Allele Report: Dmel\inaE[N125]

General Information

Symbol

Dmel\inaE^N125

Species

D. melanogaster

Name

FlyBase ID

FBal0005608

Feature type

allele

Associated gene

Dmel\inaE

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

Progenitor genotype

Cytology

Description

Mutation at the 5' splice site of the 11th intron.

(Leung et al., 2008)

Nucleotide substitution: G?A.

(Leung et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:13,804,228..13,804,228 [+]

Nucleotide change:

G13804228A

Reported nucleotide change:

G?A

Comment:

G/A transition at the 5' splice site of the 11th intron.

(Leung 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 neurophysiology

(Leung et al., 2008)

abnormal visual behavior

Phenotype Manifest In

photoreceptor cell R1

photoreceptor cell R2

photoreceptor cell R3

photoreceptor cell R4

photoreceptor cell R5

photoreceptor cell R6

Detailed Description

Statement

Reference

Mutant flies have an abnormal electroretinogram; decay of the response to a bright blue light stimulus begins during the stimulus in the mutants and continues after the stimulus. This results in a reduction in the amplitude of the prolonged depolarising afterpotential compared to control flies. The mutant flies have a prolonged refractory period after stimulation.

Mutants show a slowly decaying electroretinogram phenotype in response to a long white light stimulus.

(Leung et al., 2008)

Same basic eye-physiology phenotype as in inaA¹, inaB² and inaC¹; Causes age-dependent photoreceptor degeneration.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

inaE^N125 is an enhancer of abnormal neurophysiology | semidominant phenotype of trp^P365

(Leung et al., 2008)

inaE^N125/inaE^KG08585 is an enhancer of abnormal neurophysiology | semidominant phenotype of trp^P365

(Leung et al., 2008)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

The electroretinogram phenotype of trp^P365 heterozygotes is enhanced by inaE^N125, such that the resulting electroretinogram phenotype resembles that of trp^P365 homozygotes.

The electroretinogram phenotype of trp^P365 heterozygotes is enhanced by inaE^N125/inaE^KG08585.

In the norpA²⁹ inaE^N125 double mutant, intracellular recording of the receptor potential shows that a receptor potential of 11.5mV peak amplitude is generated in response to a bright 10 second white stimulus, but it rises to a peak within 0.1 seconds and rapidly and completely decays to baseline within 0.25 seconds.

(Leung et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

inaE^KG08585

(Leung et al., 2008)

inaE^P19

(Leung et al., 2008)

Rescued by

inaE^N125 is rescued by inaE^RD.trp