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General Information
Symbol
Dmel\ACOX1N250S.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0361031
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
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.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

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.

Allele components
Product class / Tool use(s)
Encoded product / tool
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 ( 0 )
Disease
Evidence
References
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.
ACOX1:p.Asn237Ser
Variants Synonym(s)
ACOX1:p.Asn199Ser
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of ACOX1N250S.UAS under the control of Scer\GAL4da.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 ACOX1N250S.UAS under the control of Scer\GAL4egr-GAL4 leads to climbing defects when compared to control adults.

External Data
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 (1)
Reported As
Symbol Synonym
ACOX1N250S.UAS
Name Synonyms
Secondary FlyBase IDs
    References (2)