FlyBase Allele Report: Dmel\Eaat1[PR.UAS.Venus]

General Information

Symbol

Dmel\Eaat1^PR.UAS.Venus

Species

D. melanogaster

Name

FlyBase ID

FBal0321682

Feature type

allele

Associated gene

Dmel\Eaat1

Associated Insertion(s)

Carried in Construct

P{UAS-Eaat1.PR.Venus}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Parinejad et al., 2016)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Parinejad et al., 2016)

Mutagen

in vitro construct

(Parinejad et al., 2016)

Progenitor genotype

Carried in construct

P{UAS-Eaat1.PR.Venus}

Cytology

Description

UASt regulatory sequences drive expression of Eaat1 that has been mutated to carry the P243R amino acid replacement equivalent to the P290R mutation that is associated with Type 6 episodic ataxia in the orthologous human gene (Hsap\SLC1A3). The protein is tagged at the C-terminal end with Venus.

(Parinejad et al., 2016)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Eaat1

Tagged with

Venus

yellow fluorescent protein

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:9,339,874..9,339,874 [+]

Nucleotide change:

C9339874G

Amino acid change:

Reported amino acid change:

P243R

Comment:

Analogous mutation in human SLC1A3 implicated in episodic ataxia, type 6; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Köttgen et al., 2011)

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 ( 1 )

Disease

Evidence

References

model of episodic ataxia type 6

CEA

(Parinejad et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of episodic ataxia type 6

is ameliorated by Ncc69^UAS.Tag:HA

(Parinejad et al., 2016)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Parinejad et al., 2016)

SLC1A3:p.Pro290Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

SLC1A3:p.Pro178Arg

SLC1A3:p.Pro244Arg

Associated human disease model(s)

episodic ataxia, type 6

External database links

ClinVar: SLC1A3_9441

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal cell shape | first instar larval stage, with Scer\GAL4^repo.PU

(Parinejad et al., 2016)

abnormal locomotor behavior | first instar larval stage, with Scer\GAL4^repo.PU

(Parinejad et al., 2016)

abnormal neuroanatomy | first instar larval stage, with Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Phenotype Manifest In

astrocyte-like glial cell | first instar larval stage, with Scer\GAL4^repo.PU

(Parinejad et al., 2016)

neuropil | first instar larval stage, with Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Detailed Description

Statement

Reference

Expression of Eaat1^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus} under the control of Scer\GAL4^repo.PU in larvae does not result in astrocyte differentiation defects or change in astrocyte number, but astrocytes have abnormal mature morphology and display a reduction in neuropil infiltration, as compared to controls; and larvae display abnormally long and frequent episodes of complete paralysis during which they are flaccid and unable to respond to mechanical stimulation, but these larvae can achieve the same maximum speed as controls during phases when they are not paralyzed.

(Parinejad et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU has abnormal locomotor behavior | first instar larval stage phenotype, suppressible by Ncc69^UAS.Tag:HA, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU has abnormal neuroanatomy | first instar larval stage phenotype, suppressible by Ncc69^UAS.Tag:HA, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Suppressor of

Statement

Reference

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU is a suppressor | partially of abnormal locomotor behavior | first instar larval stage phenotype of Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU is a suppressor | partially of abnormal neuroanatomy | first instar larval stage phenotype of Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Phenotype Manifest In

Suppressed by

Statement

Reference

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU has astrocyte-like glial cell | first instar larval stage phenotype, suppressible by Ncc69^UAS.Tag:HA, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU has neuropil | first instar larval stage phenotype, suppressible by Ncc69^UAS.Tag:HA, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Suppressor of

Statement

Reference

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU is a suppressor | partially of astrocyte-like glial cell | first instar larval stage phenotype of Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU is a suppressor | partially of neuropil | first instar larval stage phenotype of Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Co-expression of Ncc69^{Scer\UAS.T:Ivir\HA1} suppresses the reduced astrocyte infiltration and paralysis caused by expression of Eaat1^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus} under the control of Scer\GAL4^repo.PU. Astrocyte numbers in these larvae are unchanged as compared to controls.

(Parinejad et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to rescue

Eaat1^PR.UAS.Venus/Scer\GAL4^repo.PU fails to rescue Eaat1^SM2

(Parinejad et al., 2016)

Comments

Expression of Eaat1^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus} under the control of Scer\GAL4^repo.PU fails to rescue the loss of peristaltic contractions seen in Eaat1^SM2/Eaat1^SM2 mutant larvae.

(Parinejad et al., 2016)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Eaat1^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus}

Eaat1^PR.UAS.Venus

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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