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

General Information

Symbol

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)}

Species

H. sapiens

Name

FlyBase ID

FBal0246257

Feature type

allele

Associated gene

Hsap\APP

Associated Insertion(s)

Carried in Construct

P{GMR-APP.Aβ42}

Also Known As

GMR-Aβ42

Key Links

Transgenic product class

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

Mutagen

in vitro construct

(Finelli et al., 2004)

Progenitor genotype

Carried in construct

P{GMR-APP.Aβ42}

Cytology

Description

GMR regulatory sequences drive expression of the Hsap\APP Aβ42 peptide, tagged at the N-terminal end with the Tag:SS(rPENK) signal sequence.

(Finelli et al., 2004)

Allele components

Component

Use(s)

Regulatory region(s)

GMR

engineered transcription 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

(Fernandez-Funez et al., 2016, Cao et al., 2008, Finelli et al., 2004)

model of neurodegenerative disease

CEA

(Ng et al., 2013)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Alzheimer's disease

is exacerbated by mir-282^EP3041

(Cao et al., 2008)

is ameliorated by CG2924^EP1596

(Cao et al., 2008)

is exacerbated by CG7231^EP2510

(Cao et al., 2008)

is exacerbated by svr^KG02090

(Cao et al., 2008)

is exacerbated by elB⁹

(Cao et al., 2008)

is exacerbated by Nep2^KG05754

(Cao et al., 2008)

is exacerbated by SNF4Aγ^KG10152

(Cao et al., 2008)

is exacerbated by ATP7^EY07895

(Cao et al., 2008)

is exacerbated by cwo^EP3470

(Cao et al., 2008)

is exacerbated by Sin3A⁰⁸²⁶⁹

(Cao et al., 2008)

is exacerbated by SNF4Aγ^EP3015b

(Cao et al., 2008)

is exacerbated by elB^EP965

(Cao et al., 2008)

is exacerbated by mub^EP3108

(Cao et al., 2008)

is ameliorated by g^EP514

(Cao et al., 2008)

is exacerbated by HDAC1⁰⁴⁵⁵⁶

(Cao et al., 2008)

is exacerbated by HDAC4^KG09091

(Cao et al., 2008)

is exacerbated by Prps^KG00420

(Cao et al., 2008)

is exacerbated by Tl^EP1051

(Cao et al., 2008)

is exacerbated by esg^EP684

(Cao et al., 2008)

is ameliorated by g^B166

(Cao et al., 2008)

is exacerbated by Sap130^EY12079

(Cao et al., 2008)

is ameliorated by Nep2^EP3549

(Cao et al., 2008, Finelli et al., 2004)

is exacerbated by svr¹²⁶

(Cao et al., 2008)

is exacerbated by svr^EP356

(Cao et al., 2008)

is exacerbated by Dsp1^EP355

(Cao et al., 2008)

is ameliorated by Dyro^EP3405

(Cao et al., 2008)

is exacerbated by MESR4^EP386

(Cao et al., 2008)

is ameliorated by Hsap\HSPA1L^UAS.sec

(Fernandez-Funez et al., 2016)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal size

(Finelli et al., 2004)

abnormal size | adult stage

(Fernandez-Funez et al., 2016)

visible

(Lee et al., 2011, Finelli et al., 2004)

visible | adult stage

(Fernandez-Funez et al., 2016)

Phenotype Manifest In

eye

(Fernandez-Funez et al., 2016, Ng et al., 2013, Hong et al., 2012, Lee et al., 2011, Cao et al., 2008, Finelli et al., 2004)

eye photoreceptor cell

(Finelli et al., 2004)

interommatidial bristle

(Finelli et al., 2004)

ommatidium

(Finelli et al., 2004)

ommatidium | adult stage

(Fernandez-Funez et al., 2016)

Detailed Description

Statement

Reference

Flies expressing four copies of Hsap\APP^Aβ42.GMR exhibit small and glassy eyes.

Flies expressing two copies of Hsap\APP^Aβ42.GMR exhibit multiple ommatidial fusions in the adult eye.

(Fernandez-Funez et al., 2016)

Hsap\APP^Aβ42.GMR flies exhibit significant retinal tissue degeneration. Treatment with an aqueous extract from the rhizome of Gastrodia elata (GE) rescues rhabdomere degeneration and indicates a preventive effect of GE on neurodegeneration.

(Ng et al., 2013)

The compound eye is destroyed in Hsap\APP^Aβ42.GMR animals.

(Hong et al., 2012)

Expression of Hsap\APP^Aβ42.GMR results in profound eye degeneration. Feeding flies with linoleic acid and linolenic acid ameliorates the eye degeneration caused by Hsap\APP^Aβ42.GMR. In contrast, campesterol or γ-linolenic acid feeding does not induce any prominent changes.

(Lee et al., 2011)

Flies develop a rough eye phenotype.

(Cao et al., 2008)

Adult eyes show different degrees of eye disorganization (depending on the insertion line and the number of insertions), ranging from slight abnormalities to fusion of ommatidia and missing inter-ommatidial bristles. Eyes appear 'glazed' and are noticeably reduced in size in the most severe cases. In sections, irregular, smaller ommatidia with abnormal, degenerating photoreceptors are observed, with numerous gaps in the tissue . There are no intact ommatidia in the most severe cases - only occasional residual photoreceptors are seen, with large tissue gaps.

No gross morphological defects are seen in third instar imaginal discs from Hsap\APP^Aβ42.GMR (insertion line P{GMR-APP.Aβ42}K3) homozygous larvae.

The rough, disorganized eye phenotype seen in freshly eclosed Hsap\APP^Aβ42.GMR (insertion line P{GMR-APP.Aβ42}K3) heterozygous flies gets progressively more severe with time, reaching a plateau at 32 days.

(Finelli et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has visible | adult stage phenotype, suppressible by Hsap\HSPA1L^UAS.sec/Scer\GAL4^repo.PU

(Fernandez-Funez et al., 2016)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by Dsp1^EP355/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by svr^EP356/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by Ide^EP3099/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by mub[+]/mub^EP3108

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by cwo^EP3470/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by svr^KG02090/svr[+]

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by svr¹²⁶/svr[+]

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by ATP7[+]/ATP7^EY07895

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by elB[+]/elB⁹

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by SNF4Agamma[+]/SNF4Aγ^KG10152

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by EP1504[+]/EP1504^EP1504

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by CG11006[+]/Sap130^EY12079

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by HDAC4^KG09091/HDAC4[+]

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by Sin3A[+]/Sin3A⁰⁸²⁶⁹

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by Nep2[+]/Nep2^KG05754

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by P{EP}Pus7^EP595b/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by P{EP}ckd^EP3041/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by HDAC1⁰⁴⁵⁵⁶/Rpd3[+]

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by CG6767[+]/Prps^KG00420

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by esg^EP684/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by EP330[+]/EP330^EP330

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by Scer\GAL4^ey.PU/MESR4^EP386

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by elB^EP965/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by CG7231^EP2510/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by Tl^EP1051/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, enhanceable by SNF4Aγ^EP3015b/Scer\GAL4^ey.PU

(Cao et al., 2008)

NOT Enhanced by

Statement

Reference

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, non-enhanceable by CG2924[+]/CG2924^EY02142

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, non-enhanceable by mub⁰⁴⁰⁹³/mub[+]

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, non-enhanceable by UbcD4[+]/Ubc4^EY05497

(Cao et al., 2008)

Suppressed by

Statement

Reference

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by Hsap\HSPA1L^UAS.sec/Scer\GAL4^repo.PU

(Fernandez-Funez et al., 2016)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has ommatidium | adult stage phenotype, suppressible by Hsap\HSPA1L^UAS.sec/Scer\GAL4^repo.PU

(Fernandez-Funez et al., 2016)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by bsk¹/bsk[+]

(Hong et al., 2012)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by hep¹

(Hong et al., 2012)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by foxo²¹/foxo[+]

(Hong et al., 2012)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by foxo²⁵/foxo[+]

(Hong et al., 2012)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by CG6767[+]/Prps^EP3603

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by g[+]/g^B166

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by Scer\GAL4^ey.PU/P{EP}Atg1^EP3348

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by g[+]/g^EP514

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by EP1318^EP1318/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by CG2924[+]/CG2924^EP1596

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by CG10347^EP308/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by Dyro^EP3405/Scer\GAL4^ey.PU

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, suppressible by Nep2^EP3549/Scer\GAL4^ey.PU

(Cao et al., 2008, Finelli et al., 2004)

NOT suppressed by

Statement

Reference

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, non-suppressible by CG2924[+]/CG2924^EY02142

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, non-suppressible by mub⁰⁴⁰⁹³/mub[+]

(Cao et al., 2008)

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)} has eye phenotype, non-suppressible by UbcD4[+]/Ubc4^EY05497

(Cao et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\HSPA1L^Scer\UAS.sec under the control of Scer\GAL4^repo.PU suppresses the ommatidial fusion phenotype seen in flies expressing two copies of Hsap\APP^Aβ42.GMR.

(Fernandez-Funez et al., 2016)

Co-expression of Nep2^EP3549 using Scer\GAL4^ey.PU suppresses the Hsap\APP[Aβ42.GMR] rough eye phenotype.

(Finelli et al., 2004)

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^{Aβ42.GMR.T:Rnor\SS-PENK}

Hsap\APP^{Aβ42.GMR.Tag:SS(rPENK)}

Hsap\APP^Aβ42.GMR

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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