FlyBase Allele Report: Dmel\ninaA[3]

General Information

Symbol

Dmel\ninaA³

Species

D. melanogaster

Name

FlyBase ID

FBal0012961

Feature type

allele

Associated gene

Dmel\ninaA

Associated Insertion(s)

Carried in Construct

Also Known As

ninaA^P269, ninaA²⁶⁹

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Baker et al., 1994, Colley et al., 1991)

Mutagen

ethyl methanesulfonate

(Schneuwly et al., 1989)

Progenitor genotype

Cytology

Description

Amino acid replacement: H227L.

(Schneuwly et al., 1989)

Nucleotide substitution: A1184T.

(Schneuwly et al., 1989)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:878,139..878,139 [+]

Nucleotide change:

A878139T

Reported nucleotide change:

A1184T

Amino acid change:

H227L | ninaA-PA

Reported amino acid change:

H227L

(Schneuwly et al., 1989)

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

(Rosenbaum et al., 2006)

Phenotype Manifest In

Detailed Description

Statement

Reference

Mutants show light-independent retinal degeneration.

Macroscopic responses of ninaA³ photoreceptors (from dissociated ommatidia) to brief test flashes and modest light steps are greatly reduced in sensitivity compared to wild type.

(Rosenbaum et al., 2006)

ninaA³ mutant flies have very little Rh1 opsin in their rhabdomeres in the photoreceptor cells R1-R6, with most of the Rh1 opsin being in the ER. These cells also show large accumulations of rough ER.

(Colley et al., 1991)

Dramatic reductions in rhodopsin levels of R1--R6 cells with concomitant impaired visual function.

(Stamnes et al., 1991)

With respect to defective PDA, ninaA² > ninaA¹ > ninaA³.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

ninaA³ has endoplasmic reticulum phenotype, enhanceable by PAPLA1^KO

(Kunduri et al., 2014)

Suppressed by

Statement

Reference

ninaA³ has endoplasmic reticulum | adult stage phenotype, suppressible by ninaE¹⁷

(Colley et al., 1991)

NOT suppressed by

Statement

Reference

ninaA³ has endoplasmic reticulum | adult stage phenotype, non-suppressible by ninaE¹⁷/Rh2^ninaE.P

(Colley et al., 1991)

Additional Comments

Genetic Interactions

Statement

Reference

The endoplasmic reticulum (ER) phenotype of ninaA³ single mutants is exacerbated when PAPLA1^KO is also present in the flies. Severe dilation of the ER is observed in the double mutant.

(Kunduri et al., 2014)

ninaA³, ninaE¹⁷ double mutants do not show accumulations of ER, indicating that it is not the lack of ninaA but the presence of Rh1 opsin in ninaA mutants that cause ER proliferation (ninaE is the structural gene for Rh1). Double mutants, for ninaA³ and ninaE¹⁷, which also contain Rh2^ninaE.P still display dramatic accumulations of ER membranes in photoreceptors R1-R6.

(Colley et al., 1991)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

The phenotype can be fully rescued by P element mediated introduction of a wild type copy of ninaA.

(Stamnes et al., 1991)

Images (0)

Mutant

Wild-type

Stocks (3)

Bloomington

64822

w^*; ninaA³; P{Rh1-ninaA}36

64815

P{ninaE.Rh1-bov}7, ninaA³/CyO; ninaE¹⁷ e^s ry⁵⁰⁶

64126

P{ninaE^ΔAsn20}1, w^*; ninaA³; ninaE¹⁷ e^s

Notes on Origin

Discoverer

Pak.

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

269

(Colley et al., 1991)

ninaA²⁶⁹

(Kunduri et al., 2014, Rosenbaum et al., 2014, Rosenbaum et al., 2014)

ninaA³

(Kunduri et al., 2014)

ninaA^P268

(Schneuwly et al., 1989)

ninaA^P269

(Rosenbaum et al., 2011, Rosenbaum et al., 2006, Webel et al., 2000, Baker et al., 1994, Stamnes et al., 1991)

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

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