FlyBase Allele Report: Dmel\ptc[D584N.UAS]

General Information

Symbol

Dmel\ptc^D584N.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0134031

Feature type

allele

Associated gene

Dmel\ptc

Associated Insertion(s)

Carried in Construct

P{UAS-ptc.D584N}

Key Links

Transgenic product class

missense_variant

(Johnson et al., 2002)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Johnson et al., 2002)

Mutagen

in vitro construct

(Johnson et al., 2002)

Progenitor genotype

Carried in construct

P{UAS-ptc.D584N}

Cytology

Description

UASt regulatory sequences drive expression of a mutated form of ptc (carries the amino acid replacement D584N).

(Johnson et al., 2002)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

ptc

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

wild-type, with Scer\GAL4^ptc-559.1

(Johnson et al., 2002)

Phenotype Manifest In

anterior crossvein, with Scer\GAL4^en-e16E

(Johnson et al., 2002)

first basal wing cell, with Scer\GAL4^71B, ptc¹⁰

(Johnson et al., 2002)

first posterior wing cell, with Scer\GAL4^71B, ptc¹⁰

(Johnson et al., 2002)

wing, with Scer\GAL4^dpp.blk1

(Johnson et al., 2002)

wing | anterior, with Scer\GAL4^71B

(Johnson et al., 2002)

wing disc | dorsal, with Scer\GAL4^ap-md544

(Horabin et al., 2003)

wing vein, with Scer\GAL4^en-e16E

(Johnson et al., 2002)

wing vein | ectopic, with Scer\GAL4^71B

(Johnson et al., 2002)

wing vein | ectopic, with Scer\GAL4^71B, ptc¹⁰

(Johnson et al., 2002)

Detailed Description

Statement

Reference

When ptc^{D584N.Scer\UAS} is driven by Scer\GAL4^ap-md544, the dorsal portion of the wing disc is enlarged.

(Horabin et al., 2003)

When ptc^{Y442C.Scer\UAS} is driven by Scer\GAL4^ptc-559.1 in a ptc^-/ptc⁺ background essentially no cuticular phenotypes are seen. When ptc^{D584N.Scer\UAS} is driven by Scer\GAL4^71B, ectopic venation and expansion of the anterior region of the wing is seen. The addition of ptc¹⁰/+ to ptc^{D584N.Scer\UAS}/Scer\GAL4^71B the wing vein 3/4 intervein region is expanded and the venation defects are enhanced. When ptc^{D584N.Scer\UAS} is driven by Scer\GAL4^en-e16E, some loss of pattern in seen in the wing veins. Occasional deletions are seen of the anterior cross vein, but no ectopic venation is seen. When ptc^{D584N.Scer\UAS} is driven by Scer\GAL4^dpp.blk1, excessive growth and venation is seen in the anterior of the wing.

(Johnson et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Scer\GAL4^71B, ptc^D584N.UAS has wing | anterior phenotype, enhanceable by fu¹

(Johnson et al., 2002)

Suppressed by

Statement

Reference

Scer\GAL4^71B, ptc^D584N.UAS has wing vein | ectopic phenotype, suppressible by fu¹

(Johnson et al., 2002)

Other

Statement

Reference

Scer\GAL4^71B, fu¹, ptc^D584N.UAS has first posterior wing cell phenotype

(Johnson et al., 2002)

Scer\GAL4^71B, fu¹, ptc^D584N.UAS has first basal wing cell phenotype

(Johnson et al., 2002)

Additional Comments

Genetic Interactions

Statement

Reference

When fu¹ is added to ptc^{D584N.Scer\UAS}, Scer\GAL4^71B flies, the ectopic wing vein phenotype is almost completely suppressed, however, wing vein 3/4 intervein region is deleted.

(Johnson et al., 2002)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to rescue

Scer\GAL4^ptc-559.1/ptc^D584N.UAS fails to rescue ptc¹⁶/ptc¹⁰

(Johnson et al., 2002)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

56140

w^*; P{UAS-ptc.D584N}F2/TM3, Sb¹, Ser¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Ptc (D₅₈₄N

(Higaki et al., 2004)

ptc^{D584N.Scer\UAS}

ptc^D584N.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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