FlyBase Allele Report: Dmel\Atpα[DTS2]

General Information

Symbol

Dmel\Atpα^DTS2

Species

D. melanogaster

Name

FlyBase ID

FBal0188149

Feature type

allele

Associated gene

Dmel\Atpα

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

heat sensitive gain of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

heat sensitive gain of function allele

(Palladino et al., 2003)

Mutagen

ethyl methanesulfonate

(Palladino et al., 2003)

Progenitor genotype

Cytology

Description

Atpα protein expression levels are normal in heterozygotes.

(Ashmore et al., 2009)

Amino acid replacement: D981N.

(Palladino et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:20,973,863..20,973,863 [+]

Nucleotide change:

G20973863A

Amino acid change:

Reported amino acid change:

D981N

Comment:

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

(Palladino et al., 2003)

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 nervous system disease

CEA

(Palladino et al., 2003)

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 locomotor behavior | adult stage

(Palladino et al., 2003)

abnormal neuroanatomy | adult stage | dominant

(Palladino et al., 2003)

bang sensitive | dominant | heat sensitive

(Palladino et al., 2003)

lethal - all die before end of pupal stage (with Atpα²²⁰⁶)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^01453a)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^DTS1R1)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^DTS1R2)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^DTS2R1)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^DTS2R2)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^DTS2R3)

(Palladino et al., 2003)

lethal - all die during embryonic stage (with Atpα^H64)

(Palladino et al., 2003)

lethal - all die during embryonic stage | recessive

(Palladino et al., 2003)

paralytic | dominant | heat sensitive

(Palladino et al., 2003)

paralytic | heat sensitive (with Atpα^DTS1)

(Palladino et al., 2003)

partially lethal - majority die (with Atpα^DTS1)

(Palladino et al., 2003)

short lived

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^01453a)

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^DTS1R1)

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^DTS1R2)

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^DTS2R1)

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^DTS2R2)

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^DTS2R3)

(Palladino et al., 2003)

some die during embryonic stage (with Atpα^H64)

(Palladino et al., 2003)

some die during embryonic stage | recessive

(Palladino et al., 2003)

some die during pupal stage (with Atpα²²⁰⁶)

(Palladino et al., 2003)

Phenotype Manifest In

adult brain

(Palladino et al., 2003)

adult ventral nerve cord

(Palladino et al., 2003)

Detailed Description

Statement

Reference

Atpα^DTS2/+ flies are sluggish compared to wild-type. After exposure to 37-38^oC, these mutants become paralyzed within 10-30 seconds with complete penetrance. If this restrictive temperature is maintained for 3 minutes, then flies regain the ability to stand after 1-2 minutes at the permissive temperature and can only walk after another few minutes. Wild-type flies never become paralyzed from exposure to 37-38^oC. Although Atpα^DTS2/+ flies do not show paralysis in response to mechanical shock when maintained and tested at 20-22^oC, bang-sensitive paralysis does occur when flies are tested at this temperature if they have been maintained at 28^oC. This phenomenon can occur for several hours after placing in the permissive temperature and paralysis lasts around 5-30 seconds. Atpα^DTS2 flies have significantly shorter lifespans than wild type and become quite sedentary as they age, with a premature loss of both walking and flight activity. In the brains of middle-aged Atpα^DTS2/+ flies, neurodegeneration is evident as the appearance of vacuolar structures throughout the central brain and optic regions. Such structures are rarely seen in wild-type flies. The phenotype is age dependent as young adults (day 2-3 after eclosion) show little neuropathology. This age-dependent neurodegeneration can also be seen in the thoracic ganglion.

(Palladino et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Atpα^DTS2 has short lived | dominant phenotype, non-enhanceable by Df(1)D34/+

(Fergestad et al., 2006)

Atpα^DTS2 has short lived | dominant phenotype, non-enhanceable by para^lk5/para[+]

(Fergestad et al., 2006)

Other

Statement

Reference

Atpα^DTS2, para^ts1 has short lived phenotype

(Fergestad et al., 2006)

Atpα^DTS2, para^ST109 has short lived phenotype

(Fergestad et al., 2006)

Atpα^DTS2, para^ts115 has short lived phenotype

(Fergestad et al., 2006)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

The following double mutants all have a short lifespan of <1 week: para^ts115; Atpα^DTS2, para^ts1; Atpα^DTS2 and para^ST109; Atpα^DTS2. In contrast, heterozygosity for either para^lk5 or Df(1)D34 does not shorten the Atpα^DTS1 life span.