FlyBase Allele Report: Dmel\ninaE[pp100]

General Information

Symbol

Dmel\ninaE^pp100

Species

D. melanogaster

Name

FlyBase ID

FBal0095275

Feature type

allele

Associated gene

Dmel\ninaE

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

(Iakhine et al., 2004)

Progenitor genotype

Cytology

Description

Amino acid replacement: G299R.

(Iakhine et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:19,886,840..19,886,840 [-]

Nucleotide change:

G19886840A

Reported nucleotide change:

G?A

Amino acid change:

G299R | ninaE-PA

Reported amino acid change:

G299R

(Iakhine et al., 2004)

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 (with ninaE¹⁷)

(Iakhine et al., 2004)

abnormal neurophysiology | recessive

(Iakhine et al., 2004)

increased cell death (with ninaE¹⁷)

(Iakhine et al., 2004)

increased cell death | dominant

(Iakhine et al., 2004)

Phenotype Manifest In

ommatidium

(Iakhine et al., 2004)

retina

(Iakhine et al., 2004, Iakhine et al., 1999)

retina (with ninaE¹⁷)

(Iakhine et al., 2004)

rhabdomere

(Iakhine et al., 2004)

Detailed Description

Statement

Reference

ninaE^pp100/+ flies at 12 hours after eclosion exhibit a wild-type electroretinogram light response and a prolonged depolarizing afterpotential in response to blue light, while ninaE^pp100/ninaE^pp100 flies lack the prolonged depolarizing afterpotential. ninaE^pp100/ninaE¹⁷ transheterozygotes also lack the prolonged depolarizing afterpotential.

ninaE^pp100 mutants exhibit a dominant retinal degeneration phenotype that is enhanced in homozygotes. At 2 days of age, ninaE^pp100/+ retina possess a few holes and reduced or missing rhabdomeres, while ninaE^pp100/ninaE^pp100 2-day-old retina exhibit an increased number of large intracellular vesicles, more ommatidial disorganization, and fewer rhabdomeres. At 10 days, ninaE^pp100/+ retina exhibit degenerating R1-R6 photoreceptors and phagocytosed photoreceptors, while ninaE^pp100/ninaE^pp100 ommatidia contain a greater level of R1-R6 rhabdomeres disorganization and many large intracellular vesicles. This retinal degeneration is enhanced when flies are kept in constant light, compared to in constant darkness.

ninaE^pp100/ninaE¹⁷ transheterozygotes show a retinal degeneration phenotype that is similar to that of ninaE^pp100/ninaE^pp100 homozygotes. In contrast, ninaE^pp100/ninaE^D1 transheterozygotes do not show retinal degeneration, even when reared in constant light.

Light-induced currents of ninaE^pp100/ninaE^pp100 photoreceptor cells, measured at a time before the onset of retinal degeneration, exhibit a highly reduced sensitivity to light relative to wild-type flies. 58% of ninaE^pp100 pupal photoreceptors possess inward and outward rectifying currents in response to voltage steps in the dark, while wild-type photoreceptors exhibit only small leak currents in the dark.

(Iakhine et al., 2004)

Heterozygotes show rapid light-independent retinal degeneration.

(Iakhine et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

ninaE^pp100 has increased cell death phenotype, suppressible | partially by Gαq¹

(Iakhine et al., 2004)

ninaE^pp100 has increased cell death phenotype, suppressible by Arr2⁵/Gαq¹

(Iakhine et al., 2004)

ninaE^pp100 has abnormal neurophysiology | recessive phenotype, suppressible | partially by Arr2⁵

(Iakhine et al., 2004)

ninaE^pp100 has increased cell death phenotype, suppressible | partially by Arr2⁵

(Iakhine et al., 2004)

ninaE^pp100 has increased cell death phenotype, suppressible | partially by norpA^P24

(Iakhine et al., 2004)

ninaE^pp100 has increased cell death phenotype, suppressible | partially by trp²

(Iakhine et al., 2004)

Phenotype Manifest In

Suppressed by

Statement

Reference

ninaE^pp100 has retina phenotype, suppressible | partially by Arr2⁵

(Iakhine et al., 2004)

ninaE^pp100 has rhabdomere phenotype, suppressible | partially by Arr2⁵

(Iakhine et al., 2004)

ninaE^pp100 has retina phenotype, suppressible | partially by norpA^P24

(Iakhine et al., 2004)

ninaE^pp100 has retina phenotype, suppressible | partially by trp²

(Iakhine et al., 2004)

ninaE^pp100 has retina phenotype, suppressible | partially by Gαq¹

(Iakhine et al., 2004)

ninaE^pp100 has retina phenotype, suppressible by Arr2⁵/Gαq¹

(Iakhine et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

Light-induced currents of Arr2⁵, ninaE^pp100 double mutant photoreceptor cells show a large increase in light sensitivity relative to ninaE^pp100 cells, the sensitivity is significantly less than wild-type cells. Arr2⁵, ninaE^pp100 photoreceptors produce anomalous constitutive currents in the dark, like ninaE^pp100 single mutant photoreceptors. In Arr2⁵, ninaE^pp100 double mutants, retinal degeneration is significantly slowed but not abolished, when flies are kept in either constant light or constant darkness.

In norpA³⁶; ninaE^pp100 and ninaE^pp100, trp² double mutants, retinal degeneration is delayed but not prevented, relative to ninaE^pp100 single mutants.

Gα49B¹; ninaE^pp100 double mutant flies show a significant rescue of the ninaE^pp100 retinal degeneration phenotype to the levels of Gα49B¹ single mutants.

Gα49B¹; Arr2⁵, ninaE^pp100 triple mutants show a suppression of the retinal degeneration phenotypes seen in ninaE^pp100 single mutants. The triple mutants exhibit only very minor rhabdomeric abnormalities after 40 days.

(Iakhine et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

ninaE¹⁷

(Iakhine et al., 2004)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

ninaE^pp100

(Iakhine et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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