FlyBase Allele Report: Hsap\PRNP[V129.UAS.att]

General Information

Symbol

Hsap\PRNP^V129.UAS.att

Species

H. sapiens

Name

FlyBase ID

FBal0374702

Feature type

allele

Associated gene

Hsap\PRNP

Associated Insertion(s)

Carried in Construct

P{UAS-hPRNP.V129.att}

Also Known As

UAS-human PrP-V129

Key Links

Transgenic product class

polymorphic_sequence_variant

(Myers et al., 2022)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

polymorphic_sequence_variant

(Myers et al., 2022)

Mutagen

in vitro construct

(Myers et al., 2022)

Progenitor genotype

Carried in construct

P{UAS-hPRNP.V129.att}

Cytology

Description

UAS regulates expression of Hsap\PRNP, codon-optimized for Drosophila and carrying the V129 polymorphism.

(Myers et al., 2022)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\PRNP

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 prion disease

CEA

(Myers et al., 2023, Myers et al., 2022)

CEA with Hsap\PRNP^M129.UAS.att

(Myers et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of prion disease

is exacerbated by Hsap\APP^{Aβ42.UAS.cUa}

(Myers et al., 2022)

is exacerbated by Ire1^HMC05163

(Myers et al., 2022)

is exacerbated by PPP1R15^KK104106

(Myers et al., 2022)

is exacerbated by Thor^HMS06007

(Myers et al., 2022)

is ameliorated by PEK^HMJ02063

(Myers et al., 2022)

is exacerbated by Xbp1^JF02012

(Myers et al., 2022)

is exacerbated by Xbp1^KK102632

(Myers et al., 2022)

is ameliorated by PEK^KK100348

(Myers et al., 2022)

is exacerbated by PPP1R15^HMS00811

(Myers et al., 2022)

is ameliorated by crc^JF02007

(Myers et al., 2022)

is exacerbated by eIF2α^GLC01598

(Myers et al., 2022)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Myers et al., 2022)

PRNP:p.Met129Val

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

prion diseases

External database links

ClinVar: PRNP_13397

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage | progressive, with Scer\GAL4^ey-OK107

(Myers et al., 2023, Myers et al., 2022)

decreased cell number | adult stage | progressive, with Scer\GAL4^ey-OK107

(Myers et al., 2023)

decreased size | adult stage, with Scer\GAL4^GMR.PU

(Myers et al., 2023, Myers et al., 2022)

decreased size | adult stage | progressive, with Scer\GAL4^ey-OK107

(Myers et al., 2022)

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

(Myers et al., 2023, Myers et al., 2022)

Phenotype Manifest In

adult Kenyon cell | decreased number, with Scer\GAL4^ey-OK107

(Myers et al., 2023)

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

(Myers et al., 2023, Myers et al., 2022)

adult mushroom body alpha'' lobe, with Scer\GAL4^ey-OK107

(Myers et al., 2022)

axon | adult stage, with Scer\GAL4^ey-OK107

(Myers et al., 2022)

axon | adult stage | decreased number, with Scer\GAL4^ey-OK107

(Myers et al., 2023)

bleb | adult stage | increased number, with Scer\GAL4^ey-OK107

(Myers et al., 2023)

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

(Myers et al., 2023)

eye, with Scer\GAL4^GMR.PU

(Myers et al., 2023, Myers et al., 2022)

interommatidial bristle, with Scer\GAL4^GMR.PU

(Myers et al., 2023)

ommatidium, with Scer\GAL4^GMR.PU

(Myers et al., 2023, Myers et al., 2022)

Detailed Description

Statement

Reference

The expression of one copy of Hsap\PRNP^V129.UAS under the control of Scer\GAL4^GMR.PU induces a mildly disorganized eye, and poor differentiation of ommatidia with multiple fusions. The expression of two copies induces a small, glassy, disorganized eye, with abnormally-shaped and fused ommatidia.

The expression of one copy of Hsap\PRNP^V129.UAS under the control of Scer\GAL4^ey-OK107 induces defects in the adult mushroom body: One-day-old flies exhibit thinner axonal projections; by day 40, there is extensive degeneration with loss of α lobes and widespread membrane blebbing.

(Myers et al., 2022)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\PRNP^V129.UAS.att, Scer\GAL4^GMR.PU has visible | adult stage phenotype, enhanceable by Hsap\APP^{Aβ42.UAS.cUa}, Scer\GAL4^GMR.PU

(Myers et al., 2022)

Enhancer of

Statement

Reference

Hsap\PRNP^V129.UAS.att, Scer\GAL4^GMR.PU is an enhancer of visible | adult stage phenotype of Hsap\APP^{Aβ42.UAS.cUa}, Scer\GAL4^GMR.PU

(Myers et al., 2022)

Other

Statement

Reference

Hsap\APP^{Aβ42.UAS.cUa}, Hsap\PRNP^V129.UAS.att, Scer\GAL4^GMR.PU has decreased size | adult stage phenotype

(Myers et al., 2022)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\PRNP^V129.UAS.att, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Hsap\APP^{Aβ42.UAS.cUa}, Scer\GAL4^GMR.PU

(Myers et al., 2022)

Enhancer of

Statement

Reference

Hsap\PRNP^V129.UAS.att, Scer\GAL4^GMR.PU is an enhancer of eye phenotype of Hsap\APP^{Aβ42.UAS.cUa}, Scer\GAL4^GMR.PU

(Myers et al., 2022)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The co-expression of Hsap\APP^{Aβ42.UAS.cUa} and Hsap\PRNP^V129.UAS.att under the control of Scer\GAL4^GMR.PU enhances the eye defects induced by the single expressions, leading to a small eye, glassy eye.

(Myers et al., 2022)

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 (1)

Reported As

Symbol Synonym

Hsap\PRNP^V129.UAS.att

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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