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General Information
Symbol
Hsap\APPAβ42.GMR.Tag:SS(rPENK)
Species
H. sapiens
Name
FlyBase ID
FBal0246257
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
GMR-Aβ42
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference
GMR regulatory sequences drive expression of the Hsap\APP Aβ42 peptide, tagged at the N-terminal end with the Tag:SS(rPENK) signal sequence.
Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
is exacerbated by Dsp1EP355
is ameliorated by CG6175EP3405
is ameliorated by CG2924EP1596
is exacerbated by CG7231EP2510
is exacerbated by svrKG02090
is exacerbated by MESR4EP386
is exacerbated by mir-282EP3041
is exacerbated by elB9
is exacerbated by Nep2KG05754
is exacerbated by SNF4AγKG10152
is exacerbated by ATP7EY07895
is exacerbated by cwoEP3470
is exacerbated by Sin3A08269
is exacerbated by SNF4AγEP3015b
is exacerbated by elBEP965
is exacerbated by mubEP3108
is ameliorated by gEP514
is exacerbated by HDAC104556
is exacerbated by HDAC4KG09091
is exacerbated by CG6767KG00420
is exacerbated by TlEP1051
is exacerbated by esgEP684
is ameliorated by gB166
is exacerbated by Sap130EY12079
is exacerbated by svr126
is exacerbated by svrEP356
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
Flies expressing four copies of Hsap\APPAβ42.GMR exhibit small and glassy eyes. Flies expressing two copies of Hsap\APPAβ42.GMR exhibit multiple ommatidial fusions in the adult eye.
Hsap\APPAβ42.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.
The compound eye is destroyed in Hsap\APPAβ42.GMR animals.
Expression of Hsap\APPAβ42.GMR results in profound eye degeneration. Feeding flies with linoleic acid and linolenic acid ameliorates the eye degeneration caused by Hsap\APPAβ42.GMR. In contrast, campesterol or γ-linolenic acid feeding does not induce any prominent changes.
Flies develop a rough eye phenotype.
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\APPAβ42.GMR (insertion line P{GMR-APP.Aβ42}K3) homozygous larvae. The rough, disorganized eye phenotype seen in freshly eclosed Hsap\APPAβ42.GMR (insertion line P{GMR-APP.Aβ42}K3) heterozygous flies gets progressively more severe with time, reaching a plateau at 32 days.
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
Statement
Reference
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by mub[+]/mubEP3108
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by svrKG02090/svr[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by svr126/svr[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by ATP7[+]/ATP7EY07895
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by elB[+]/elB9
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by SNF4Agamma[+]/SNF4AγKG10152
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by EP1504[+]/EP1504EP1504
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by CG11006[+]/Sap130EY12079
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by HDAC104556/Rpd3[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by HDAC4KG09091/HDAC4[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by Sin3A[+]/Sin3A08269
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by Nep2[+]/Nep2KG05754
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by CG6767[+]/CG6767KG00420
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, enhanceable by EP330[+]/EP330EP330
NOT Enhanced by
Statement
Reference
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, non-enhanceable by CG2924[+]/CG2924EY02142
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, non-enhanceable by mub04093/mub[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, non-enhanceable by UbcD4[+]/Ubc4EY05497
Suppressed by
Statement
Reference
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by bsk1/bsk[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by foxo21/foxo[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by foxo25/foxo[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by g[+]/gEP514
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by CG2924[+]/CG2924EP1596
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by CG6767[+]/CG6767EP3603
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, suppressible by g[+]/gB166
NOT suppressed by
Statement
Reference
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, non-suppressible by mub04093/mub[+]
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, non-suppressible by UbcD4[+]/Ubc4EY05497
Hsap\APPAβ42.GMR.Tag:SS(rPENK) has eye phenotype, non-suppressible by CG2924[+]/CG2924EY02142
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Expression of Hsap\HSPA1LScer\UAS.sec under the control of Scer\GAL4repo.PU suppresses the ommatidial fusion phenotype seen in flies expressing two copies of Hsap\APPAβ42.GMR.
Co-expression of Nep2EP3549 using Scer\GAL4ey.PU suppresses the Hsap\APP[Aβ42.GMR] rough eye phenotype.
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\APPAβ42.GMR.T:Rnor\SS-PENK
Hsap\APPAβ42.GMR.Tag:SS(rPENK)
Hsap\APPAβ42.GMR
Name Synonyms
Secondary FlyBase IDs
    References (6)