FlyBase Allele Report: Dmel\Psn[527.D447A.UAS]

General Information

Symbol

Dmel\Psn^{527.D447A.UAS}

Species

D. melanogaster

Name

FlyBase ID

FBal0156035

Feature type

allele

Associated gene

Dmel\Psn

Associated Insertion(s)

Carried in Construct

P{UAS-Psn.527.D447A}

Key Links

Transgenic product class

missense_variant

(Parks, 2004.5.12)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Parks, 2004.5.12)

Mutagen

in vitro construct

(Parks, 2004.5.12)

Progenitor genotype

Carried in construct

P{UAS-Psn.527.D447A}

Cytology

Description

UAS regulatory sequences drive expression of the 527 amino acid isoform of Psn. The amino acid replacement D447A has been introduced in the coding region, to mimic a D385A change in the human ortholog.

(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

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

DOES NOT model Alzheimer's disease 3

CEA

(Banerjee et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates brain cancer

modeled by Vps35^E42

(Li et al., 2018)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Parks, 2004.5.12)

Relevance to disease not addressed.

PSEN1:p.Asp385Ala

(FlyBase curators, 2019-)

Variants Synonym(s)

PSEN1:p.Asp381Ala

Associated human disease model(s)

External database links

Comments concerning this variant

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.D447A.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

Suppressor of

Statement

Reference

Scer\GAL4^insc-Mz1407/Psn^{527.D447A.UAS} is a suppressor of increased cell number | larval stage phenotype of Vps35^E42

(Li et al., 2018)

Scer\GAL4^insc-Mz1407/Psn^{527.D447A.UAS} is a suppressor of abnormal neuroanatomy | larval stage phenotype of Vps35^E42

(Li et al., 2018)

Phenotype Manifest In

Enhanced by

Statement

Reference

Psn^{527.D447A.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)

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a has axon | third instar larval stage phenotype, enhanceable by sgg^S9A.UAS, Scer\GAL4^Appl.G1a

(Banerjee et al., 2018)

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a has larval segmental nerve | third instar larval stage phenotype, enhanceable by sgg^UAS.cBa, Scer\GAL4^Appl.G1a

(Banerjee et al., 2018)

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a has axon | third instar larval stage phenotype, enhanceable by sgg^UAS.cBa, Scer\GAL4^Appl.G1a

(Banerjee et al., 2018)

Enhancer of

Statement

Reference

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a is an enhancer of larval segmental nerve | third instar larval stage phenotype of Scer\GAL4^Appl.G1a, sgg^S9A.UAS

(Banerjee et al., 2018)

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a is an enhancer of axon | third instar larval stage phenotype of Scer\GAL4^Appl.G1a, sgg^S9A.UAS

(Banerjee et al., 2018)

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a is an enhancer of larval segmental nerve | third instar larval stage phenotype of Scer\GAL4^Appl.G1a, sgg^UAS.cBa

(Banerjee et al., 2018)

Psn^{527.D447A.UAS}, Scer\GAL4^Appl.G1a is an enhancer of axon | third instar larval stage phenotype of Scer\GAL4^Appl.G1a, sgg^UAS.cBa

(Banerjee et al., 2018)

Suppressor of

Statement

Reference

Scer\GAL4^insc-Mz1407/Psn^{527.D447A.UAS} is a suppressor of larval neuroblast | increased number | larval stage phenotype of Vps35^E42

(Li et al., 2018)

Scer\GAL4^insc-Mz1407/Psn^{527.D447A.UAS} is a suppressor of embryonic/larval brain | larval stage phenotype of Vps35^E42

(Li et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Psn^{527.D447A.GMR} suppresses the Hsap\APP^695.Scer\UAS-induced cell death seen upon expression in the developing wing (under the control of Scer\GAL4^ptc-559.1).

(Wang et al., 2014)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (3)

Bloomington

8321