FlyBase Allele Report: Hsap\APP[695-Swedish.UAS.Tag:MYC]

General Information

Symbol

Hsap\APP^{695-Swedish.UAS.Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0138484

Feature type

allele

Associated gene

Hsap\APP

Associated Insertion(s)

Carried in Construct

P{UAS-APP695-Swedish-N-myc}

Also Known As

UAS-APP-Swedish

Key Links

Transgenic product class

missense_variant

(Merdes, 2002.9)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Merdes, 2002.9)

Mutagen

in vitro construct

(Merdes, 2002.9)

Progenitor genotype

Carried in construct

P{UAS-APP695-Swedish-N-myc}

Cytology

Description

Similar to P{UAS-APP.695-Swedish}, though tagged with Tag:MYC at the N-terminal end.

(Merdes, 2002.9)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\APP

Tagged with

Tag:MYC

epitope tag

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

(Park et al., 2014, Sarantseva et al., 2009)

model of Alzheimer's disease 1

CEA

(Du et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Alzheimer's disease 1

is ameliorated by Dhc64C^JF03177

(Du et al., 2021)

is ameliorated by syd^GLC01419

(Du et al., 2021)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Sarantseva et al., 2009)

APP:p.Lys670_Met671delinsAsnLeu

(FlyBase curators, 2019-)

Variants Synonym(s)

APP:p.Lys595_Met596delinsAsnLeu

Associated human disease model(s)

Alzheimer disease 1

External database links

ClinVar: APP_18093

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal learning | adult stage | progressive, with Scer\GAL4^elav-C155

(Sarantseva et al., 2009)

abnormal memory | adult stage | progressive, with Scer\GAL4^elav-C155

(Sarantseva et al., 2009)

abnormal neuroanatomy, with Scer\GAL4^elav-C155

(Park et al., 2014)

abnormal neuroanatomy | adult stage | progressive, with Scer\GAL4^elav-C155

(Sarantseva et al., 2009)

Phenotype Manifest In

adult brain | progressive, with Scer\GAL4^elav-C155

(Sarantseva et al., 2009)

adult mushroom body, with Scer\GAL4^elav-C155

(Park et al., 2014)

axon, with Scer\GAL4^elav-C155

(Park et al., 2014)

axon terminus, with Scer\GAL4^elav-C155

(Park et al., 2014)

mitochondrion, with Scer\GAL4^elav-C155

(Park et al., 2014)

Detailed Description

Statement

Reference

Ultrastructural analysis reveals neuro-degradation evidences by autophagy-related vacuole structures in the mushroom body of flies expressing Hsap\APP^{695-Swedish.Scer\UAST:Hsap\MYC} under the control of Scer\GAL4^elav-C155. The mushroom body of transgenic flies display lipid droplets of various sizes at ultrastructural level that appear in several organelles. Presynaptic axon diameters vary more in the transgenic mushroom bodies than do in wild-type. Axon terminals in the transgenic model exhibit slightly increased diameter of axon terminals compared with wild-type. Axonal volume and shape differ markedly between the transgenic model and wild-type. In wild-type, most reconstructed axons appear long and straight, with axon terminals adopting a typical shape at the end of or along the length of axons. By contrast, in flies expressing Scer\GAL4^elav-C155>Hsap\APP^{695-Swedish.Scer\UAST:Hsap\MYC} axons display an unusual shape, with comparatively short axon segments that vary considerably in area and volume. Compared with wild-type, no significant changes in mitochondrial dispersion are noted in the transgenic model. However, mitochondrial volume is significantly increased (approximately 3.3-fold) in the transgenic model compared with wild-type. Mitochondrial content per unit area of axon is similar in the transgenic model and wild-type.

(Park et al., 2014)

Expression of Hsap\APP^{695-Swedish.Scer\UAST:Hsap\MYC} under the control of Scer\GAL4^elav-C155 results in age-progressive neurodegeneration as evidenced by the appearance of vacuolar lesions in the adult brain. The adult flies also display age-progressive learning and memory defects in an aversive olfactory memory assay.

(Sarantseva et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\APP^{695-Swedish.UAS.Tag:MYC}, Scer\GAL4^elav-C155 has abnormal neuroanatomy | adult stage | progressive phenotype, non-enhanceable by Hsap\BACE1^UAS.cGa, Scer\GAL4^elav-C155

(Sarantseva et al., 2009)

Other

Statement

Reference

Hsap\APP^{695-Swedish.UAS.Tag:MYC}, Hsap\BACE1^UAS.cGa, Scer\GAL4^elav-C155 has abnormal memory | adult stage | progressive phenotype

(Sarantseva et al., 2009)

Hsap\APP^{695-Swedish.UAS.Tag:MYC}, Hsap\BACE1^UAS.cGa, Scer\GAL4^elav-C155 has abnormal learning | adult stage | progressive phenotype

(Sarantseva et al., 2009)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\APP^{695-Swedish.UAS.Tag:MYC}, Scer\GAL4^elav-C155 has adult brain | progressive phenotype, non-enhanceable by Hsap\BACE1^UAS.cGa, Scer\GAL4^elav-C155

(Sarantseva et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The loss of tissue due to age-progressive neurodegeneration (vacuolar lesions) observed in the brains of adult flies expressing Hsap\APP^{695-Swedish.Scer\UAST:Hsap\MYC} under the control of Scer\GAL4^elav-C155 is not significantly affected by co-expression of Hsap\BACE1^Scer\UAS.cGa. Flies expressing Hsap\APP^{695-Swedish.Scer\UAST:Hsap\MYC} either alone or in combination with Hsap\BACE1^Scer\UAS.cGa display strong age-progressive learning and memory defects.

(Sarantseva et al., 2009)

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

Hsap\APP^{695-Swedish.Scer\UAST:Hsap\MYC}

Hsap\APP^{695-Swedish.UAS.Tag:MYC}

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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