FlyBase Allele Report: Dmel\inaD[P215]

General Information

Symbol

Dmel\inaD^P215

Species

D. melanogaster

Name

FlyBase ID

FBal0005607

Feature type

allele

Associated gene

Dmel\inaD

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

Missense mutation in the third PDZ domain.

(Tsunoda et al., 1997)

Amino acid replacement: M442K.

(Shieh and Zhu, 1996, Shieh and Niemeyer, 1995, Shieh and Zhu, 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:22,856,649..22,856,649 [-]

Nucleotide change:

T22856649A

Reported nucleotide change:

T?A

Amino acid change:

M442K | inaD-PA; M454K | inaD-PB

Reported amino acid change:

M442K

(Shieh and Niemeyer, 1995)

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

(Popescu et al., 2006, Gengs et al., 2002)

abnormal visual behavior

(Leung et al., 2000)

abnormal visual behavior | dominant

(Shieh and Niemeyer, 1995)

abnormal visual behavior | recessive

(Shieh and Zhu, 1996)

Phenotype Manifest In

photoreceptor neuron

(Leung et al., 2000, Chevesich et al., 1997)

retina

(Popescu et al., 2006)

Detailed Description

Statement

Reference

In inaD¹ mutants, individual photoreceptors form the correct number of synapses per

presynaptic terminal independently of cartridge composition.

(Hiesinger et al., 2006)

In red-eyed inaD^P215 homozygous flies flies dark-adapted for 2 minutes, the electro-retinogram (ERG) response to 2 second bright white-light stimulation displays the initial fast depolarization and maintenance during stimulation seen in wild-type. However, the recovery of polarisation following the end of stimulation is slower than in wild-type. This phenotype is not seen when low light levels are used.

(Popescu et al., 2006)

Mutants have defects in the on/off transients of the electroretinogram. Histamine-activated conductance in mutant laminar L1/L2 neurons appears indistinguishable from wild type.

(Gengs et al., 2002)

ERG responses are more wild type in peak amplitude, amount of decay during illumination, refractory period and response latency than those of trp².

(Leung et al., 2000)

The electroretinograms of young inaD¹ flies are abnormal; they show a delay in termination of the photoresponse. Exposure to a shorter light stimulus in these flies results in a less severe termination defect.

(Li and Montell, 2000)

inaC² inaD¹ double mutants show abnormal ERGs (electroretinograms) with response inactivation; they show a marked reduction in response to a second pulse of light.

(Adamski et al., 1998)

Light-dependent retinal degeneration.

(Chevesich et al., 1997)

norpA^C1094S.hs inaD¹ double mutants display a profound loss of the visual response.

(Shieh et al., 1997)

inaD¹ mutants have an electroretinogram (ERG) phenotype that approaches that of trp mutants. Flies show slow deactivation kinetics in response to a flash of light. The mean latency times between stimulus and quantum-bump generation are significantly greater than in wild-type flies, although quantum bumps from inaD¹ flies show normal termination kinetics.

(Tsunoda et al., 1997)

Double mutants of inaD¹ with trp² show the same ERG phenotype as trp² alone.

(Shieh and Zhu, 1996)

Patch clamp recordings of homo- and heterozygotes show a slow deactivation of the light-induced current, this defective deactivation is dependent of calcium influx. Photoreceptors show increased sensitivity to dim light. Two copies of P{hsp70-InsD} can completely rescue the wild type physiology of inaD¹ heterozygotes, two copies cannot rescue homozygotes.

(Shieh and Niemeyer, 1995)

Semi-dominant mutant of visual physiology, such that the phenotype (re PDA) of heterozygote similar to that produced by other ina homozygotes; inaD homozygotes exhibit ERG response that decays to baseline during bright light stimulus, and off transient is absent.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

inaD^P215, trpl³⁰² has abnormal visual behavior phenotype

(Leung et al., 2000)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

inaD^P215 is a non-suppressor of rhabdomere phenotype of rdgA¹

(Georgiev et al., 2005)

Other

Statement

Reference

inaD^P215, trpl³⁰² has photoreceptor neuron phenotype

(Leung et al., 2000)

Additional Comments

Genetic Interactions

Statement

Reference

Rhabdomeres of trpl³⁰²,inaD¹ double mutants are intact in 1 day old flies. ERG light responses of trpl³⁰²,inaD¹ and trpl³⁰²,trp² are small and transient, but the response amplitude of trpl³⁰²,inaD¹ is significantly smaller than that of trpl³⁰²,trp². Similarly, refractory period and response latency defects are more severe for trpl³⁰²,inaD¹ than for trpl³⁰²,trp².

(Leung et al., 2000)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

42242

w^*; inaD^P215

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

InaD^P215

(Georgiev et al., 2005, Kumar and Shieh, 2001, Leung et al., 2000, Li and Montell, 2000, Liu et al., 2000, Montell, 1998, Chevesich et al., 1997, Ponting et al., 1997, Shieh and Zhu, 1996)

P215

(Gengs et al., 2002)

inaD¹

(Cheng and Nash, 2007)

inaD²¹⁵

(Tsunoda et al., 1997)

inaD^P215

(Peng et al., 2008, Harteneck, 2003)

inaD^p215

(Hiesinger et al., 2006, Popescu et al., 2006, Adamski et al., 1998, Shieh et al., 1997, Shieh et al., 1997, Shieh and Niemeyer, 1995, Shieh and Zhu, 1995)

Name Synonyms

Secondary FlyBase IDs

References (22)

Report Sections

Open Close