FlyBase Allele Report: Hsap\GARS1[G240R.UAS]

General Information

Symbol

Hsap\GARS1^G240R.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0314808

Feature type

allele

Associated gene

Hsap\GARS1

Associated Insertion(s)

Carried in Construct

PBac{UAS-GARS.G240R}

Key Links

Transgenic product class

missense_variant

(Niehues et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Niehues et al., 2015)

Mutagen

in vitro construct

(Niehues et al., 2015)

Progenitor genotype

Carried in construct

PBac{UAS-GARS.G240R}

Cytology

Description

UASt regulates expression of Hsap\GARS cDNA containing a G240R mutation (which is linked to Charcot-Marie-Tooth disease).

(Niehues et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\GARS1

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 Charcot-Marie-Tooth disease

CEA

(Niehues et al., 2015)

model of Charcot-Marie-Tooth disease type 2D

CEA

(Zuko et al., 2021)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Niehues et al., 2015)

GARS1:p.Gly294Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

GARS1:p.Gly240Arg

Associated human disease model(s)

Charcot-Marie-Tooth disease, type 2D

External database links

ClinVar: GARS1_9204

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy, with Scer\GAL4^Toll-6-D42

(Niehues et al., 2015)

abnormal neuroanatomy | larval stage, with Scer\GAL4^ppk.PU

(Niehues et al., 2015)

abnormal neuroanatomy | progressive, with Scer\GAL4^VGlut1-OK371

(Niehues et al., 2015)

lethal, with Scer\GAL4^Act5C.PU

(Niehues et al., 2015)

lethal, with Scer\GAL4^nSyb.PU

(Niehues et al., 2015)

lethal, with Scer\GAL4^VGlut1-OK371

(Niehues et al., 2015)

short lived | conditional, with Scer\GAL4^Tub.PU

(Niehues et al., 2015)

Phenotype Manifest In

embryonic/larval neuromuscular junction, with Scer\GAL4^Toll-6-D42

(Niehues et al., 2015)

embryonic/larval neuromuscular junction, with Scer\GAL4^VGlut1-OK371

(Niehues et al., 2015)

larval multidendritic class IV neuron | larval stage, with Scer\GAL4^ppk.PU

(Niehues et al., 2015)

Detailed Description

Statement

Reference

Scer\GAL4^tub.PU-mediated expression from the adult stage onwards (achieved via the GAL80 target system) reduces lifespan in a Scer\UAS-transgene dose-dependent manner.

Scer\GAL4^VGlut-OK371-mediated expression does not affect the number of motor neuron cell bodies in the ventral nerve cord of third instar larvae, but does induce defects in neuromuscular junction (NMJ) morphology, most strikingly the absence of the NMJ innervating muscle 24, in the vast majority of larvae. In second instar larvae, muscle 24 is innervated in the vast majority of larvae, but this percentage rapidly declines at later developmental stages. Scer\GAL4^D42-mediated expression of Hsap\GARS^{G240R.Scer\UAS} also induces denervation of muscle 24.

Scer\GAL4^VGlut-OK371-mediated expression significantly reduces synapse size on all muscles analyzed (distal muscles 8 and 1/9; and proximal muscles 21 and 4), with the reduction being more pronounced on distal compared to proximal muscles.

Scer\GAL4^ppk.PU-mediated expression induces a significant reduction in class IV multi-dendritic coverage within the larval body wall, while cell body morphology is not altered.

(Niehues et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\GARS1^G240R.UAS, Scer\GAL4^VGlut1-OK371 has abnormal neuroanatomy phenotype, non-enhanceable by MetRS^{L262G.UAS.EGFP}, Scer\GAL4^VGlut1-OK371

(Niehues et al., 2015)

Hsap\GARS1^G240R.UAS, Scer\GAL4^ppk.PU has abnormal neuroanatomy | larval stage phenotype, non-enhanceable by MetRS^{L262G.UAS.EGFP}, Scer\GAL4^ppk.PU

(Niehues et al., 2015)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\GARS1^G240R.UAS, Scer\GAL4^VGlut1-OK371 has embryonic/larval neuromuscular junction phenotype, non-enhanceable by MetRS^{L262G.UAS.EGFP}, Scer\GAL4^VGlut1-OK371

(Niehues et al., 2015)

Hsap\GARS1^G240R.UAS, Scer\GAL4^ppk.PU has larval multidendritic class IV neuron | larval stage phenotype, non-enhanceable by MetRS^{L262G.UAS.EGFP}, Scer\GAL4^ppk.PU

(Niehues et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

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 (3)

Reported As

Symbol Synonym

Hsap\GARS1^G240R.UAS

Hsap\GARS^{G240R.Scer\UAS}

Hsap\GARS^G240R.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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