FlyBase Allele Report: Dmel\Eaat1[SM2]

General Information

Symbol

Dmel\Eaat1^SM2

Species

D. melanogaster

Name

FlyBase ID

FBal0266203

Feature type

allele

Associated gene

Dmel\Eaat1

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

amorphic allele - genetic evidence

amorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Stacey et al., 2010)

amorphic allele - molecular evidence

(Stacey et al., 2010)

Mutagen

P-element activity

(Stacey et al., 2010)

Progenitor genotype

P{EPgy2}Eaat1^EY20741

(Stacey et al., 2010)

Cytology

Description

Imprecise excision of the progenitor insertion, resulting in a 1293bp deletion that removes the start codon and sequence encoding the first two transmembrane domains and part of the third transmembrane domain of Eaat1.

(Stacey et al., 2010)

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 with Eaat1^hypo

(Peng et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates Wolfram syndrome 1

modeled by wfs1^HMC03559

(Sakakibara et al., 2018)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate | larval stage (with Eaat1^hypo)

(Peng et al., 2019)

abnormal locomotor behavior | first instar larval stage

(Parinejad et al., 2016)

abnormal locomotor behavior | larval stage

(Wu et al., 2022, Stacey et al., 2010)

abnormal locomotor behavior | larval stage (with Df(2L)30A-C)

(Stacey et al., 2010)

abnormal locomotor behavior | larval stage (with Eaat1^hypo)

(Peng et al., 2019)

abnormal neuroanatomy | larval stage (with Eaat1^hypo)

(Peng et al., 2019)

abnormal neurophysiology | first instar larval stage

(Stacey et al., 2010)

abnormal neurophysiology | larval stage (with Eaat1^hypo)

(Peng et al., 2019)

abnormal size | larval stage (with Eaat1^hypo)

(Peng et al., 2019)

lethal - all die before end of first instar larval stage

(Peng et al., 2019)

lethal - all die before end of larval stage

(Stacey et al., 2010)

lethal - all die before end of larval stage (with Df(2L)30A-C)

(Stacey et al., 2010)

lethal - all die before end of larval stage (with Eaat1^hypo)

(Peng et al., 2019)

lethal - all die before end of larval stage (with Eaat1^SM1)

(Stacey et al., 2010)

some die during embryonic stage

(Peng et al., 2019)

some die during first instar larval stage (with Eaat1^hypo)

(Peng et al., 2019)

some die during larval stage

(Peng et al., 2019, Stacey et al., 2010)

some die during larval stage (with Df(2L)30A-C)

(Stacey et al., 2010)

some die during larval stage (with Eaat1^SM1)

(Stacey et al., 2010)

some die during second instar larval stage (with Eaat1^hypo)

(Peng et al., 2019)

Phenotype Manifest In

Detailed Description

Statement

Reference

Eaat1^SM2/Eaat1^SM2 larvae show impaired crawling behavior.

(Wu et al., 2022)

Eaat1^hypo/Eaat1^SM2 transheterozygous larvae have severely impaired locomotion and their neuromuscular junctions exhibit morphological and functional defects compared to controls, namely a significant increase in burst duration and a decrease in burst frequency, significantly more but smaller boutons (including satellite boutons) and smaller muscles.

(Peng et al., 2019)

Eaat1^SM2 heterozygotes do not show climbing defects.

(Sakakibara et al., 2018)

Eaat1^SM2/Eaat1^SM2 mutant larvae exhibit a severe reduction in peristaltic contractions, as compared to wild type. Astrocytes in these mutants infiltrate the CNS neuropil normally.

(Parinejad et al., 2016)

Homozygous, Eaat1^SM1/Eaat1^SM2 and Eaat1^SM2/Df(2L)30A-C larvae all die by 48 hours post-hatching.

Homozygous and Eaat1^SM2/Df(2L)30A-C larvae have a dramatically reduced rate of full-body peristaltic contractions compared to controls.

The amplitude and frequency of spontaneous rhythmic currents (SRCs) is reduced in the aCC and RP2 neurons of homozygous first instar larvae (measured 1-4 hours after hatching). A total absence of SRCs is observed in 42% of the motor neurons (during a 3 minute recording period). The kinetic properties of the mutant SRCs are also altered compared to wild type: they have an abnormally long decay compared to controls.

(Stacey et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, suppressible | partially by Scer\GAL4^alrm.PD/Hsap\SLC1A3^A329T.UAS

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, suppressible by Hsap\SLC1A3^T318A.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, suppressible by Hsap\SLC1A3^UAS.cWa/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, suppressible by Hsap\SLC1A3^C186S.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | first instar larval stage phenotype, suppressible by Scer\GAL4^repo.PU/Hsap\SLC1A3^UAS.Venus

(Parinejad et al., 2016)

NOT suppressed by

Statement

Reference

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Hsap\SLC1A3^V393I.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Hsap\SLC1A3^M128R.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Hsap\SLC1A3^P392V.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Scer\GAL4^alrm.PD/Hsap\SLC1A3^K114L.UAS

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Hsap\SLC1A3^P98G.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Hsap\SLC1A3^S103V.UAS/Scer\GAL4^alrm.PD

(Wu et al., 2022)

Eaat1^SM2 has abnormal locomotor behavior | first instar larval stage phenotype, non-suppressible by Scer\GAL4^repo.PU/Hsap\SLC1A3^PR.UAS.Venus

(Parinejad et al., 2016)

Enhancer of

Statement

Reference

Eaat1[+]/Eaat1^SM2 is an enhancer of abnormal locomotor behavior | adult stage | progressive phenotype of Scer\GAL4^elav-C155, wfs1^HMC03559

(Sakakibara et al., 2018)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\SLC1A3^{Scer\UAS.T:Avic\GFP-YFP.Venus}, but not Hsap\SLC1A3^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus}, under the control of Scer\GAL4^repo.PU rescues the loss of peristaltic contractions seen in Eaat1^SM2/Eaat1^SM2 mutant larvae.

(Parinejad et al., 2016)

Complementation and Rescue Data

Rescued by

Eaat1^SM2/Eaat1^hypo is rescued by Scer\GAL4^repo/Eaat1^UAS.Venus

(Peng et al., 2019)

Eaat1^SM2 is rescued by Scer\GAL4^repo.PU/Eaat1^UAS.Venus

(Parinejad et al., 2016)

Eaat1^SM2 is rescued by Eaat1^UAS.GFP/Scer\GAL4^naz.PS

(Stacey et al., 2010)

Not rescued by

Eaat1^SM2 is not rescued by Eaat1^PR.UAS.Venus/Scer\GAL4^repo.PU

(Parinejad et al., 2016)

Comments

Expression of Eaat1^{Scer\UAS.T:Avic\GFP-YFP.Venus}, but not Eaat1^{PR.Scer\UAS.T:Avic\GFP-YFP.Venus}, under the control of Scer\GAL4^repo.PU rescues the loss of peristaltic contractions seen in Eaat1^SM2/Eaat1^SM2 mutant larvae.

(Parinejad et al., 2016)

Expression of Eaat1^{Scer\UAS.T:Avic\GFP} under the control of Scer\GAL4^CG31235.PS rescues the reduction in full-body peristaltic contractions which is seen in Eaat1^SM2 larvae. The reduction in the amplitude and frequency of spontaneous rhythmic currents (SRCs) in the aCC and RP2 neurons which is seen in Eaat1^SM2 homozygous first instar larvae is also rescued by expression of Eaat1^{Scer\UAS.T:Avic\GFP} under the control of Scer\GAL4^CG31235.PS.

(Stacey et al., 2010)

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^SM2

(Wu et al., 2022, Sakakibara et al., 2018, Parinejad et al., 2016, Peco et al., 2016, Walker et al., 2013, Stacey et al., 2010)

eaat1^SM2

(Peng et al., 2019)

Name Synonyms

Secondary FlyBase IDs

References (7)

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