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

General Information

Symbol

Hsap\PRNP^V129.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0344043

Feature type

allele

Associated gene

Hsap\PRNP

Associated Insertion(s)

Carried in Construct

P{UAS-hPRNP.V129}

Key Links

Transgenic product class

polymorphic_sequence_variant

(Fernandez-Funez et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

polymorphic_sequence_variant

(Fernandez-Funez et al., 2017)

Mutagen

in vitro construct

(Fernandez-Funez et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hPRNP.V129}

Cytology

Description

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

(Fernandez-Funez et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

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

(Fernandez-Funez et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of prion disease

is ameliorated by PEK^GD5584

(Fernandez-Funez et al., 2017)

is ameliorated by PEK^KK100348

(Fernandez-Funez et al., 2017)

is exacerbated by PEK^UAS.cMa

(Fernandez-Funez et al., 2017)

is ameliorated by crc^KK111018

(Fernandez-Funez et al., 2017)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Fernandez-Funez et al., 2017)

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 locomotor behavior | adult stage | RU486 conditional, with Scer\GAL4^{elav.Switch.PO}

(Myers et al., 2022)

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

(Myers et al., 2022)

lethal, with Scer\GAL4^elav.PU

(Myers et al., 2022)

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

(Myers et al., 2022)

Phenotype Manifest In

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

(Myers et al., 2022)

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

(Myers et al., 2022)

eye, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

eye photoreceptor cell | adult stage, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

eye photoreceptor cell | adult stage | decreased number, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

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

(Myers et al., 2022)

ommatidium, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

retina, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

rhabdomere, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

rhabdomere | decreased number, with Scer\GAL4^GMR.PU

(Myers et al., 2022)

Detailed Description

Statement

Reference

The expression of Hsap\PRNP^V129.UAS under the control of Scer\GAL4^GMR.PU induces a disorganized, glassy eye, with disorganized and vacuolated retinas; most ommatidia contain few photoreceptors and their arrangement appears disrupted. TEM analysis shows rhabdomere loss, with small and disorganized remaining rhabdomeres, and vacuolated photoreceptors containing hyperplastic endoplasmic reticulum.

The expression of Hsap\PRNP^V129.UAS under the control of Scer\GAL4^{elav.Switch.PO},induced by RU486, leads to decreased climbing ability.

The expression of Hsap\PRNP^V129.UAS under the control of Scer\GAL4^ey-OK107 results in absence of mushroom body and in smaller medullas.

(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, Scer\GAL4^GMR.PU has visible | adult stage phenotype, enhanceable by Ire1^GD3071, Scer\GAL4^GMR.PU