FlyBase Allele Report: Dmel\Psn[527.deltaE9.UAS]

General Information

Symbol

Dmel\Psn^{527.deltaE9.UAS}

Species

D. melanogaster

Name

FlyBase ID

FBal0156029

Feature type

allele

Associated gene

Dmel\Psn

Associated Insertion(s)

Carried in Construct

P{UAS-Psn.527.deltaE9}

Key Links

Genomic Maps

JBrowse

Transgenic product class

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

Mutagen

in vitro construct

(Parks, 2004.5.12)

Progenitor genotype

Carried in construct

P{UAS-Psn.527.deltaE9}

Cytology

Description

UAS regulatory sequences drive expression of a mutated form of the 527 amino acid isoform of Psn. Sequence equivalent to exon 9 of the human ortholog (nucleotides 1078-1170 in AF017024) have been replaced with sequence encoding a Cys residue.

(Parks, 2004.5.12)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Psn

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

complex_substitution

3L:20,434,087..20,434,178 [+]

Comment:

Analogous to a splice site mutation in human PSEN1 which results in replacement of exon 9 with a Cys codon and is implicated in Alzheimer disease 3; mutation carried on in vitro construct; nucleotide deletion/insertion in fly gene inferred by FlyBase curator to mimic reported amino acid change

Inserted_sequence:

(Banerjee et al., 2018)

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 3

CEA

(Banerjee et al., 2018)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Banerjee et al., 2018)

PSEN1:p.Ser290_Ser319delinsCys

(FlyBase curators, 2019-)

Variants Synonym(s)

PSEN1:p.Ser286_Ser315delinsCys

Associated human disease model(s)

External database links

ClinVar: PSEN1_18134

Comments concerning this variant

Deletion of exon 9.

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

axon | third instar larval stage, with Scer\GAL4^Appl.G1a

(Banerjee et al., 2018)

larval segmental nerve | third instar larval stage, with Scer\GAL4^Appl.G1a

(Banerjee et al., 2018)

Detailed Description

Statement

Reference

Expression of Psn^{527.deltaE9.UAS} under the control of Scer\GAL4^Appl.G1a leads to axonal blockages in third instar larval segmental nerves compared to controls.

(Banerjee et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Psn^{527.deltaE9.UAS}, Scer\GAL4^Appl.G1a has larval segmental nerve | third instar larval stage phenotype, enhanceable by sgg^S9A.UAS, Scer\GAL4^Appl.G1a

(Banerjee et al., 2018)