FlyBase Allele Report: Dmel\Acox1[N250S.UAS]

General Information

Symbol

Dmel\Acox1^N250S.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0361031

Feature type

allele

Associated gene

Dmel\Acox1

Associated Insertion(s)

Carried in Construct

PBac{UAS-Acox1.N250S}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Chung et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Chung et al., 2020)

Mutagen

in vitro construct

(Chung et al., 2020)

Progenitor genotype

Carried in construct

PBac{UAS-Acox1.N250S}

Cytology

Description

UASt regulatory sequences drive expression of the full-length ACOX1 open reading frame (ORF) (from the GH07485 cDNA clone), mutated to carry a N250S amino acid substitution. This change is equivalent to a N237S change in the human ACOX1 gene, a variant identified in patients with progressive ataxia and hearing loss. The endogenous stop codon is present, thus even though three copies of the Tag:HA tag are present downstream of the ORF, they are not expected to form part of the translated protein. The ORF is flanked by a pair of incompatible FRT sites (FRT5 and FRT2), which allows for future in vivo exchange of either the promoter or tag sequence.

(Chung et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Acox1

Also carries

FRT2

recombinase target site

FRT5

recombinase target site

loxP

recombinase target site

UASt

binary expression system - regulatory region

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:17,762,864..17,762,864 [+]

Nucleotide change:

A17762864G

Amino acid change:

N250S | ACOX1-PA

Reported amino acid change:

N250S

Comment:

Analogous N237S mutation in human ACOX1 implicated in Mitchell syndrome; mutation carried on in vitro construct.

(Chung et al., 2020)

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 Mitchell syndrome

CEA

(Chung et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Mitchell syndrome

is ameliorated by Cat^UAS.cAa

(Chung et al., 2020)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Chung et al., 2020)

ACOX1:p.Asn237Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

ACOX1:p.Asn199Ser

Associated human disease model(s)

Mitchell syndrome

External database links

ClinVar: 584427

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^da.G32

(Chung et al., 2020)

abnormal locomotor behavior | adult stage, with Scer\GAL4^egr-GAL4

(Chung et al., 2020)

decreased rate of feeding behavior | adult stage, with Scer\GAL4^da.G32

(Chung et al., 2020)

flightless, with Scer\GAL4^da.G32

(Chung et al., 2020)

lethal, with Scer\GAL4^Act5C.PI

(Chung et al., 2020)

lethal, with Scer\GAL4^αTub84B.PL

(Chung et al., 2020)

partially lethal, with Scer\GAL4^egr-GAL4

(Chung et al., 2020)

partially lethal, with Scer\GAL4^repo

(Chung et al., 2020)

partially lethal - majority die, with Scer\GAL4^da.G32

(Chung et al., 2020)

short lived, with Scer\GAL4^da.G32

(Chung et al., 2020)

short lived, with Scer\GAL4^egr-GAL4

(Chung et al., 2020)

some die during larval stage, with Scer\GAL4^da.G32

(Chung et al., 2020)

some die during P-stage, with Scer\GAL4^da.G32

(Chung et al., 2020)

viable, with Scer\GAL4^alrm.PD

(Chung et al., 2020)

viable, with Scer\GAL4^Cg.PA

(Chung et al., 2020)

viable, with Scer\GAL4^elav-C155

(Chung et al., 2020)

viable, with Scer\GAL4^Feb36

(Chung et al., 2020)

viable, with Scer\GAL4^He.PZ

(Chung et al., 2020)

viable, with Scer\GAL4^Hml.Δ

(Chung et al., 2020)

viable, with Scer\GAL4^Mai60

(Chung et al., 2020)

viable, with Scer\GAL4^Mz709

(Chung et al., 2020)

viable, with Scer\GAL4^nSyb.PS

(Chung et al., 2020)

viable, with Scer\GAL4^Pxn.PS

(Chung et al., 2020)

Phenotype Manifest In

axon | decreased number, with Scer\GAL4^da.G32

(Chung et al., 2020)

neural lamella | adult stage, with Scer\GAL4^da.G32

(Chung et al., 2020)

wing nerve, with Scer\GAL4^da.G32

(Chung et al., 2020)

Detailed Description

Statement

Reference

Expression of ACOX1^N250S.UAS under the control of Scer\GAL4^da.G32 leads to abnormal multi-lamella bodies, aberrant membrane structures and a decrease in the number of axons in wing nerves when compared to controls. Also many axons are irregular in shape and most of the wrapping glia are aberrant in size and shape.

Expression of ACOX1^N250S.UAS under the control of Scer\GAL4^egr-GAL4 leads to climbing defects when compared to control adults.

(Chung et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Acox1^N250S.UAS, Scer\GAL4^da.G32 has short lived phenotype, suppressible by Cat^UAS.cAa, Scer\GAL4^da.G32

(Chung et al., 2020)

Acox1^N250S.UAS, Scer\GAL4^egr-GAL4 has short lived phenotype, suppressible by Cat^UAS.cAa, Scer\GAL4^egr-GAL4

(Chung et al., 2020)

Acox1^N250S.UAS, Scer\GAL4^egr-GAL4 has abnormal locomotor behavior | adult stage phenotype, suppressible by Cat^UAS.cAa, Scer\GAL4^egr-GAL4

(Chung et al., 2020)

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 (2)

Reported As

Symbol Synonym

ACOX1^N250S.UAS

Acox1^N250S.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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