FlyBase Allele Report: Dmel\Atpα[CJ13]

General Information

Symbol

Dmel\Atpα^CJ13

Species

D. melanogaster

Name

FlyBase ID

FBal0282775

Feature type

allele

Associated gene

Dmel\Atpα

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - molecular evidence

(Ashmore et al., 2009)

Mutagen

ethyl methanesulfonate

(Ashmore et al., 2009)

Progenitor genotype

Cytology

Description

Amino acid replacement: A588T.

(Ashmore et al., 2009)

Nucleotide substitution: G?A.

(Ashmore et al., 2009)

The A588T change is equivalent to a A606T change in the orthologous human ATP1A2 gene (a mutation known to cause familial hemiplegic migraine).

(Ashmore et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:20,965,632..20,965,632 [+]

Nucleotide change:

G20965632A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

A588T

(Ashmore et al., 2009)

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 familial hemiplegic migraine

CEA

(Ashmore et al., 2009)

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.

(Ashmore et al., 2009)

ATP1A2:p.Ala606Thr

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: ATP1A2_449379

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | dominant

(Ashmore et al., 2009)

abnormal neuroanatomy | dominant

(Ashmore et al., 2009)

bang sensitive (with Atpα^CJ7)

(Ashmore et al., 2009)

bang sensitive | dominant

(Ashmore et al., 2009)

lethal

(Ashmore et al., 2009)

lethal (with Atpα^CJ4)

(Ashmore et al., 2009)

lethal (with Atpα^CJ5)

(Ashmore et al., 2009)

lethal (with Atpα^CJ6)

(Ashmore et al., 2009)

lethal (with Atpα^CJ10)

(Ashmore et al., 2009)

lethal (with Atpα^DTS1R1)

(Ashmore et al., 2009)

lethal (with Atpα^DTS2R3)

(Ashmore et al., 2009)

lethal | heat sensitive (with Atpα^CJ7)

(Ashmore et al., 2009)

partially lethal - majority die | heat sensitive (with Atpα^CJ12)

(Ashmore et al., 2009)

viable (with Atpα^CJ7)

(Ashmore et al., 2009)

viable (with Atpα^CJ12)

(Ashmore et al., 2009)

Phenotype Manifest In

adult brain

(Ashmore et al., 2009)

Detailed Description

Statement

Reference

Heterozygotes are bang sensitive, homozygotes are lethal.

Atpα^CJ7/Atpα^CJ13 animals are viable and bang sensitive at 25[o]C, but all animals die at 29[o]C.

Atpα^CJ12/Atpα^CJ13 animals are viable at 25[o]C but semi-lethal at 29[o]C.

Heterozygotes display normal waking activity levels - i.e., normal circadian rhythms.

Heterozygotes display reduced waking locomotor activity in response to startle stimulation.

Aged heterozygous adult brains exhibit marked (large clustering) vacuolar pathology throughout.

Aged heterozygous flight muscle does not exhibit myopathology.

Heterozygous mutants have a significantly lower respiration (metabolic) rate than controls.

Homozygous embryos form normal paracellular barriers and trachea.

Young heterozygous adults display no overt locomotor defects. However, these flies show significant, progressive bang sensitivity as they age.

Heterozygotes have a lifespan similar to controls.

Heterozygous adults do not show a marked reduction in feeding.

(Ashmore et al., 2009)

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 (2)

Reported As

Symbol Synonym

ATPalpha^CJ13

(Ashmore et al., 2009)

Atpα^CJ13

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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