FlyBase Allele Report: Dmel\csw[T468M.UASp]

General Information

Symbol

Dmel\csw^T468M.UASp

Species

D. melanogaster

Name

FlyBase ID

FBal0241538

Feature type

allele

Associated gene

Dmel\csw

Associated Insertion(s)

Carried in Construct

P{UASp-csw.T468M}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Oishi et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Oishi et al., 2009)

Mutagen

in vitro construct

(Oishi et al., 2009)

Progenitor genotype

Carried in construct

P{UASp-csw.T468M}

Cytology

Description

UASp regulatory sequences drive expression of csw containing the amino acid replacement T592M (this mutation is equivalent to the T468M mutation in the human ortholog Hsap\PTPN11, which is a mutation associated with LEOPARD syndrome in humans).

(Oishi et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

UASp

binary expression system - regulatory region

Encoded product / tool

csw

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:2,110,791..2,110,792 [+]

Reported amino acid change:

T592M

Comment:

Mutation in analogous codon in human PTPN11 implicated in Leopard syndrome 1; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Oishi et al., 2009)

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 ( 1 )

FlyBase curator comment: The mutation in csw^{T468M.Scer\UAS.P\T} is equivalent to the loss-of-function T468M mutation in the human ortholog Hsap\PTPN11, which is associated with LEOPARD syndrome in humans. Although the mutant protein had no phosphatase activity it resulted in gain-of-function ectopic wing vein phenotype in Drosophila; it is not clear how this relates to phenotypes observed in LEOPARD syndrome.

(Oishi et al., 2009)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Oishi et al., 2009)

PTPN11:p.Thr468Met

(FlyBase curators, 2019-)

Variants Synonym(s)

PTPN11:p.Thr472Met

Associated human disease model(s)

Noonan syndrome with multiple lentigines 1

External database links

ClinVar: PTPN11_13331

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

crossvein, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

wing, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

wing vein, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

wing vein L2, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Detailed Description

Statement

Reference

Expression of csw^{T468M.Scer\UAS} under the control of Scer\GAL4^tub does not affect viability or fertility. While expression does not appear to affect early development, approximately 20% of Scer\GAL4^tub-csw^{T468M.Scer\UAS} adult flies display ectopic wing veins, mainly in the peripheral area of L2 and the posterior cross vein.

Flies expressing csw^{T468M.Scer\UAS} under the control of Scer\GAL4^tub do not exhibit altered photoreceptor formation or ommatidial rotation.

(Oishi et al., 2009)

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

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

csw^{T468M.Scer\UAS.P\T}

csw^{T468M.Scer\UAS}

csw^T468M.UASp

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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