FlyBase Allele Report: Hsap\SLC1A3[PR.UAS.Venus]

General Information

Symbol

Hsap\SLC1A3^PR.UAS.Venus

Species

H. sapiens

Name

FlyBase ID

FBal0321684

Feature type

allele

Associated gene

Hsap\SLC1A3

Associated Insertion(s)

Carried in Construct

P{UAS-HsEAAT1.PR.Venus}

Key Links

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-HsEAAT1.PR.Venus}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\SLC1A3 that has been mutated to carry the P290R amino acid replacement associated with Type 6 episodic ataxia. 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

Hsap\SLC1A3

Tagged with

Venus

yellow fluorescent protein

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 Hsap\SLC1A3^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus} under the control of Scer\GAL4^repo.PU in L1 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.

(Parinejad et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU has abnormal locomotor behavior | first instar larval stage phenotype, suppressible | partially by Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU has abnormal neuroanatomy | first instar larval stage phenotype, suppressible | partially by Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

NOT Suppressor of

Statement

Reference

Scer\GAL4^repo.PU/Hsap\SLC1A3^PR.UAS.Venus is a non-suppressor of abnormal locomotor behavior | first instar larval stage phenotype of Eaat1^SM2

(Parinejad et al., 2016)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU has astrocyte-like glial cell | first instar larval stage phenotype, suppressible | partially by Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Hsap\SLC1A3^PR.UAS.Venus, Scer\GAL4^repo.PU has neuropil | first instar larval stage phenotype, suppressible | partially by Eaat1^PR.UAS.Venus, Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Ncc69^{Scer\UAS.T:Ivir\HA1} partially suppresses the reduced astrocyte infiltration and paralysis caused by expression of Hsap\SLC1A3^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus} under the control of Scer\GAL4^repo.PU.

Expression of Hsap\SLC1A3^{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)

Complementation and Rescue Data

Comments

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

Hsap\SLC1A3^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus}

Hsap\SLC1A3^PR.UAS.Venus

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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