FlyBase Allele Report: Dmel\GlyRS[P234KY-2.UAS]

General Information

Symbol

Dmel\GlyRS^P234KY-2.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0305323

Feature type

allele

Associated gene

Dmel\GlyRS

Associated Insertion(s)

Carried in Construct

P{UAS-GlyRS.P234KY-2}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Grice et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Grice et al., 2015)

Mutagen

in vitro construct

(Grice et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-GlyRS.P234KY-2}

Cytology

Description

UASt regulates expression of the cytoplasmic isoform of GlyRS bearing a P234KY mutation, the equivalent of a mutation that is associated with Charcot-Marie-Tooth (CMT) disease type 2D in humans.

(Grice et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

GlyRS

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:15,096,219..15,096,221 [+]

Comment:

P32KYmutation. Mutation in analogous codon in human GARS implicated in Charcot-Marie-Tooth disease, type 2D; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Grice et al., 2015)

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 type 2

CEA

(Grice et al., 2015)

model of Charcot-Marie-Tooth disease type 2D

CEA

(Grice et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Charcot-Marie-Tooth disease type 2D

is ameliorated by PlexA^UAS.cWa

(Grice et al., 2018)

is ameliorated by PlexB^KG00878

(Grice et al., 2018)

is exacerbated by PlexB^UAS.Tag:MYC

(Grice et al., 2018)

is NOT ameliorated by Sema1a^UAS.cYa

(Grice et al., 2018)

is ameliorated by Sema2a^{UAS.GFP,Tag:M(mCd8a)}

(Grice et al., 2018)

is exacerbated by PlexA^MB09499

(Grice et al., 2018)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Grice et al., 2015)

GARS1:p.Pro288delinsLysTyr

(FlyBase curators, 2019-)

Variants Synonym(s)

GARS1:p.Pro234delinsLysTyr

Associated human disease model(s)

Charcot-Marie-Tooth disease, type 2D

External database links

Comments concerning this variant

Analogous to a disease variant in mouse.

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

abnormal locomotor behavior | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

abnormal locomotor behavior | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

abnormal locomotor behavior | larval stage | heat sensitive, with Scer\GAL4^elav.PU

(Grice et al., 2015)

abnormal neuroanatomy | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

abnormal neuroanatomy | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

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

(Grice et al., 2015)

lethal | heat sensitive, with Scer\GAL4^1032.hx

(Grice et al., 2015)

majority die during pupal stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

partially lethal | heat sensitive, with Scer\GAL4^how-24B

(Grice et al., 2015)

partially lethal | heat sensitive, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

viable, with Scer\GAL4^elav.PU

(Grice et al., 2015)

Phenotype Manifest In

axon | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

axon | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

axon | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

NMJ bouton | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

NMJ bouton | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

NMJ bouton | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

wing | heat sensitive, with Scer\GAL4^1032.hx

(Grice et al., 2015)

Detailed Description

Statement

Reference

Scer\GAL4^1032.hx Aats-gly^{P234KY-2.Scer\UAS} escapers (raised at 25[o]C) fail to expand their wings.

Scer\GAL4^1032.hx, Scer\GAL4^elav.PU, Scer\GAL4^how-24B or Scer\GAL4^Mhc.PU-mediated expression results in reduced larval muscle contractions. This is seen when larvae are raised at 20 or 25o[C] in all cases except Scer\GAL4^elav.PU, where the effect is only seen at 25[o]C.

Scer\GAL4^1032.hx-mediated expression results in reduced bouton number and increased bouton size at larval neuromuscular junctions. Scer\GAL4^how-24B or Scer\GAL4^Mhc.PU-mediated, but not Scer\GAL4^elav.PU-mediated expression also reduces bouton number. Synaptic denervation and axon degeneration are also apparent in these animals. No gross changes in muscle size or structure are observed.

(Grice et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

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

Aats-gly^{P234KY-2.Scer\UAS}

GlyRS^{P234KY-2.Scer\UAS}

GlyRS^P234KY-2.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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