FlyBase Allele Report: Dmel\MetRS-m[HV]

General Information

Symbol

Dmel\MetRS-m^HV

Species

D. melanogaster

Name

FlyBase ID

FBal0269091

Feature type

allele

Associated gene

Dmel\MetRS-m

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: V42D.

(Bayat et al., 2012)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:14,259,717..14,259,717 [-]

Nucleotide change:

T14259717A

Amino acid change:

V42D | MetRS-m-PA; V42D | MetRS-m-PB; V42D | MetRS-m-PC

Reported amino acid change:

V42D

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Bayat et al., 2012)

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 neurodegenerative disease

CEA with MetRS-m^FB

(Bayat et al., 2012)

model of mitochondrial metabolism disease

CEA with MetRS-m^FB

(Bayat et al., 2012)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage | conditional (with MetRS-m^FB)

(Bayat et al., 2012)

abnormal neurophysiology | adult stage | somatic clone | conditional

(Bayat et al., 2012)

abnormal neurophysiology | adult stage | somatic clone | conditional (with MetRS-m^FB)

(Bayat et al., 2012)

flightless (with MetRS-m^FB)

(Bayat et al., 2012)

lethal - all die before end of P-stage (with MetRS-m^c00449)

(Bayat et al., 2012)

lethal - all die before end of pupal stage (with Df(3R)Exel7321)

(Bayat et al., 2012)

partially lethal - majority die

(Bayat et al., 2012)

partially lethal - majority die (with MetRS-m^FB)

(Bayat et al., 2012)

short lived

(Bayat et al., 2012)

short lived (with MetRS-m^FB)

(Bayat et al., 2012)

some die during pharate adult stage

(Bayat et al., 2012)

some die during pharate adult stage (with MetRS-m^c00449)

(Bayat et al., 2012)

some die during pharate adult stage (with MetRS-m^FB)

(Bayat et al., 2012)

some die during pupal stage (with Df(3R)Exel7321)

(Bayat et al., 2012)

Phenotype Manifest In

eye photoreceptor cell | conditional (with MetRS-m^FB)

(Bayat et al., 2012)

imaginal disc (with Df(3R)Exel7321)

(Bayat et al., 2012)

indirect flight muscle cell (with MetRS-m^FB)

(Bayat et al., 2012)

larval brain (with Df(3R)Exel7321)

(Bayat et al., 2012)

mitochondrion (with MetRS-m^FB)

(Bayat et al., 2012)

pigment cell (with MetRS-m^FB)

(Bayat et al., 2012)

Detailed Description

Statement

Reference

1 day old flies containing large clones of homozygous tissue in the eye have an electroretinogram (ERG) with a significantly reduced amplitude compared to wild type. The ERG amplitude decreases as the flies age.

Aats-met^HV/Aats-met^FB adult escapers have normal ERGs at 1 day old, while the ERG is severely abnormal in 3 week old flies. The rhabdomeres and overall structure of the photoreceptors appears normal, with the correct number of photoreceptors per ommatidium in 1 day old flies. The total mitochondrial area in the mutant photoreceptors is greater than normal in 1 day and 1 week old flies. Lipid droplets are present in the pigment cells in mutant flies, a phenotype not seen in wild type. The photoreceptors and glial cells progressively degenerate, such that by 3 weeks of age, most photoreceptors are severely affected and many organelles are barely recognisable.

Homozygous and Aats-met^HV/Aats-met^FB flies have shorter lifespans than normal and are unable to fly.

The myofibrils of the indirect flight muscles appear intact in 1 day old Aats-met^HV/Aats-met^FB flies, but the mitochondria are clearly abnormal, being larger than normal. The myofibrils show defects in 1 week old flies and the mitochondria are very large.

Aats-met^HV/Df(3R)Exel7321 animals die as late third instar larvae or small pupae, and have small imaginal discs and larval brains.

(Bayat et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

MetRS-m^HV/Df(3R)Exel7321 has lethal phenotype, suppressible by Scer\GAL4^Act5C.PU/Hsap\MARS2^UAS.cBa

(Bayat et al., 2012)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\MARS2^Scer\UAS.cBa under the control of Scer\GAL4^Act5C.PU rescues the lethality of Aats-met^HV/Df(3R)Exel7321 flies.

(Bayat et al., 2012)

Complementation and Rescue Data

Rescued by

MetRS-m^HV/Df(3R)Exel7321 is rescued by Scer\GAL4^Act5C.PU/MetRS-m^UAS.cBa

(Bayat et al., 2012)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

39748

y¹ w^*; P{neoFRT}82B MetRS-m^HV/TM3, P{hs-hid}14, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Aats-met-m^HV

Aats-met^HV

(Bayat et al., 2012)

MetRS-m^HV

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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