FlyBase Allele Report: Hsap\APP[Arctic.Aβ42.UAS.Tag:SS(rPENK)]

General Information

Symbol

Hsap\APP^{Arctic.Aβ42.UAS.Tag:SS(rPENK)}

Species

H. sapiens

Name

FlyBase ID

FBal0243229

Feature type

allele

Associated gene

Hsap\APP

Associated Insertion(s)

Carried in Construct

P{UAS-Aβ42.Arc}

Also Known As

AΒ42Arc

Key Links

Transgenic product class

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

Mutagen

in vitro construct

(Iijima et al., 2008)

Progenitor genotype

Carried in construct

P{UAS-Aβ42.Arc}

Cytology

Description

UASt regulatory sequences drive expression of an Aβ42 peptide carrying the Arctic mutation (amino acid replacement E22G). The protein is tagged with the Tag:SS(rPENK) signal peptide.

(Iijima et al., 2008)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\APP

Tagged with

Tag:SS(rPENK)

signal sequence

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 Alzheimer's disease

CEA

(Iijima et al., 2008)

model of Alzheimer's disease 1

CEA

(Iijima et al., 2010)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^UAS.cWa

(Iijima et al., 2010)

model of Alzheimer's disease 1

is exacerbated by p53^259H.GUS

(Iijima et al., 2010)

is exacerbated by p53^Ct.GUS

(Iijima et al., 2010)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Iijima et al., 2008)

This construct carries the amyloid Aβ42 peptide; variant described relative to the full-length protein and in terms of the Aβ42 peptide.

APP:p.Glu693Gly

(FlyBase curators, 2019-)

Variants Synonym(s)

APP(Aβ42 peptide):p.Glu22Gly

Associated human disease model(s)

External database links

ClinVar: APP_18098

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior, with Scer\GAL4^elav-C155

(Iijima et al., 2008)

abnormal memory, with Scer\GAL4^elav-C155

(Iijima et al., 2008)

short lived, with Scer\GAL4^elav-C155

(Iijima et al., 2008)

visible | adult stage, with Scer\GAL4^GMR.PF

(Iijima-Ando et al., 2010)

Phenotype Manifest In

calyx of adult mushroom body, with Scer\GAL4^ey-OK107

(Iijima et al., 2008)

eye, with Scer\GAL4^GMR.PF

(Iijima-Ando et al., 2010)

neuron, with Scer\GAL4^elav-C155

(Iijima et al., 2008)

neuropil, with Scer\GAL4^elav-C155

(Iijima et al., 2008)

neuropil, with Scer\GAL4^ey-OK107

(Iijima et al., 2008)

Detailed Description

Statement

Reference

Expression of Hsap\APP^{Aβ1-42.Scer\UAS.Arc} in the central clock neurons under the control of Scer\GAL4^P2.4.Pdf elevates the levels of fat body triglycerides compared to controls. Circadian behavior appears normal. These mutants do not consume more food over a 24hr period compared to controls.

(Diangelo et al., 2011)

Expression of Hsap\APP^{Aβ1-42.Scer\UAS.Arc} in the eye under the control of Scer\GAL4^GMR.PF causes degeneration.

(Iijima-Ando et al., 2010)

Expression of Hsap\APP^{Aβ1-42.Scer\UAS.Arc} driven by Scer\GAL4^elav-C155 results in neurodegeneration, locomotor dysfunction and decreased adult lifespan. 5 and 10 day old mutant flies also manifest 1 hour memory defects.

Scer\GAL4^elav-C155- or Scer\GAL4^ey-OK107-driven expression of Hsap\APP^{Aβ1-42.Scer\UAS.Arc} results in neuropil degeneration in flies 79 days after eclosion.

Calyxes in the adult mushroom body expressing Scer\GAL4^ey-OK107-driven Hsap\APP^{Aβ1-42.Scer\UAS.Arc} start to degenerate 79 days after eclosion.

(Iijima et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\APP^{Arctic.Aβ42.UAS.Tag:SS(rPENK)}, Scer\GAL4^GMR.PF has visible | adult stage phenotype, non-enhanceable by lok^UAS.cPa, Scer\GAL4^GMR.PF

(Iijima-Ando et al., 2010)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\APP^{Arctic.Aβ42.UAS.Tag:SS(rPENK)}, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by lok^UAS.cPa, Scer\GAL4^GMR.PF

(Iijima-Ando et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of lok^Scer\UAS.cPa does not enhance the eye degeneration phenotype seen when Hsap\APP^{Aβ1-42.Scer\UAS.Arc} is expressed under the control of Scer\GAL4^GMR.PF.

(Iijima-Ando et al., 2010)

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 (3)

Reported As

Symbol Synonym

Hsap\APP^{Arctic.Aβ42.Scer\UAS.T:Rnor\SS-PENK}

Hsap\APP^{Arctic.Aβ42.UAS.Tag:SS(rPENK)}

Hsap\APP^{Aβ1-42.Scer\UAS.Arc}

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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