FlyBase Allele Report: Dmel\da[A600V.UAS]

General Information

Symbol

Dmel\da^A600V.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0318119

Feature type

allele

Associated gene

Dmel\da

Associated Insertion(s)

Carried in Construct

P{UAS-da.R600V}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Tamberg et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Tamberg et al., 2015)

Mutagen

in vitro construct

(Tamberg et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-da.R600V}

Cytology

Description

UASt regulatory sequences drive expression of a mutant form of da (A600V), which is analogous to the A614V mutation seen in Pitt-Hopkins syndrome (PTHS) in humans.

(Tamberg et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:10,391,860..10,391,860 [+]

Nucleotide change:

C10391860T

Amino acid change:

A600V | da-PA; A600V | da-PB; A600V | da-PC; A600V | da-PD

Reported amino acid change:

A600V

Comment:

Analogous mutation in human TCF4 implicated in Pitt-Hopkins syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Tamberg et al., 2015)

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 Pitt-Hopkins syndrome

CEA

(Tamberg et al., 2015)

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.

(Tamberg et al., 2015)

TCF4:p.Ala610Val

(FlyBase curators, 2019-)

Variants Synonym(s)

TCF4:p.Ala614Val

Associated human disease model(s)

Pitt-Hopkins syndrome

External database links

ClinVar: TCF4_581714

Comments concerning this variant

Phenotypic Data

Phenotypic Class

lethal - all die during embryonic stage, with Scer\GAL4^da.G32

(Tamberg et al., 2015)

short lived, with Scer\GAL4^da.G32, Scer\GAL80^ts.αTub84B

(Tamberg et al., 2015)

viable, with Scer\GAL4^da.G32, Scer\GAL80^ts.αTub84B

(Tamberg et al., 2015)

visible, with Scer\GAL4^GMR12B08

(Tamberg et al., 2015)

visible, with Scer\GAL4^pnr.PU

(Tamberg et al., 2015)

Phenotype Manifest In

eye, with Scer\GAL4^GMR12B08

(Tamberg et al., 2015)

macrochaeta | ectopic, with Scer\GAL4^pnr.PU

(Tamberg et al., 2015)

Detailed Description

Statement

Reference

Expression of da^{A600V.Scer\UAS} under the control of Scer\GAL4^pnr.PU induces ectopic bristle formation on the thorax.

Expression of two copies of da^{A600V.Scer\UAS} under the control of two copies of Scer\GAL4^GMR12B08 results in a rough eye phenotype. No phenotype is seen when only one copy of da^{A600V.Scer\UAS} is present.

Constitutive expression of da^{A600V.Scer\UAS} under the control of Scer\GAL4^da.G32 leads to embryo lethality. Expression limited to the adult stages (using Scer\GAL80^ts.αTub84B) results in lethality in 10-11 days.

(Tamberg et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescues

da^A600V.UAS/Scer\GAL4^da.G32 partially rescues da¹⁰

(Tamberg et al., 2015)

Comments

Expression of da^{A600V.Scer\UAS} under the control of Scer\GAL4^da.G32 rescues the neuronal phenotypes seen in homozygous da¹⁰ mutant embryos. The embryonic lethality is not rescued.

(Tamberg et al., 2015)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

da^{A600V.Scer\UAS}

da^A600V.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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