FlyBase Allele Report: Dmel\csw[Y279C.UASp]

General Information

Symbol

Dmel\csw^Y279C.UASp

Species

D. melanogaster

Name

FlyBase ID

FBal0241537

Feature type

allele

Associated gene

Dmel\csw

Associated Insertion(s)

Carried in Construct

P{UASp-csw.Y279C}

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.Y279C}

Cytology

Description

UASp regulatory sequences drive expression of csw containing the amino acid replacement Y258C (this mutation is equivalent to the Y279C 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:2,109,583..2,109,583 [+]

Nucleotide change:

A2109583G

Amino acid change:

Y311C | csw-PD; Y258C | csw-PA; Y358C | csw-PB; Y99C | csw-PC

Reported amino acid change:

Y258C

Comment:

Analogous mutation 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^{Y279C.Scer\UAS.P\T} is equivalent to the loss-of-function Y279C 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 and rough eye phenotypes; it is not clear how these relate 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.Tyr279Cys

(FlyBase curators, 2019-)

Variants Synonym(s)

PTPN11:p.Tyr278Cys

Associated human disease model(s)

Noonan syndrome with multiple lentigines 1

External database links

ClinVar: PTPN11_13328

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

crossvein, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

eye, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

ommatidium, with Scer\GAL4^Tub.PU

(Oishi et al., 2009)

photoreceptor cell R7 | ectopic, 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^{Y279C.Scer\UAS} under the control of Scer\GAL4^tub does not affect viability or fertility. While expression does not appear to affect early development, all Scer\GAL4^tub-csw^{Y279C.Scer\UAS} adult flies display ectopic wing veins, mainly in the peripheral area of L2 and the posterior cross vein. Additionally, there are numerous small ectopic vein structures widely spread over the entire csw^{Y279C.Scer\UAS}-expressing area on the wing.

Flies expressing csw^{Y279C.Scer\UAS} under the control of Scer\GAL4^tub exhibit a rough eye phenotype. although the size of the eye is not obviously affected, the arrangement of the ommatidia is altered. The ommatidia are not symmetrically organised, with microscopy sections revealing the presence of multiple R7 photoreceptors in 24.5% of ommatidia. These eyes also display abnormalities of ommatidial rotation (20% of ommatidia).

Flies expressing both csw^{Y279C.Scer\UAS} and csw^{R465M.Scer\UAS} under the control of Scer\GAL4^tub results in strong suppression of ectopic wing vein formation. The number of R7 photoreceptors is normal, along with ommatidial rotation.

(Oishi et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, enhanceable by sty²²⁶/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has eye phenotype, enhanceable by sty²²⁶/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has ommatidium phenotype, enhanceable by sty²²⁶/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has photoreceptor cell R7 | ectopic phenotype, enhanceable by sty²²⁶/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, enhanceable by aos^Δ7/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, enhanceable by RasGAP1^B2, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

NOT Enhanced by

Statement

Reference

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, non-enhanceable by Scer\GAL4^Tub.PU/drk^e0A

(Oishi et al., 2009)

Suppressed by

Statement

Reference

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible by Egfr^t1, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has photoreceptor cell R7 | ectopic phenotype, suppressible by S^IIN, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible by Scer\GAL4^Tub.PU/Sos^34Ea-6

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible by Ras85D^e1B, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible by rl^10a/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has eye phenotype, suppressible by Egfr^t1, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has ommatidium phenotype, suppressible by Egfr^t1, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has photoreceptor cell R7 | ectopic phenotype, suppressible by Egfr^t1, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible | partially by spi¹/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible | partially by vn^C221/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, suppressible by S^IIN, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has eye phenotype, suppressible by S^IIN, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

Scer\GAL4^Tub.PU, csw^Y279C.UASp has ommatidium phenotype, suppressible by S^IIN, Scer\GAL4^Tub.PU

(Oishi et al., 2009)

NOT suppressed by

Statement

Reference

Scer\GAL4^Tub.PU, csw^Y279C.UASp has wing vein phenotype, non-suppressible by Scer\GAL4^Tub.PU/drk^e0A

(Oishi et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

The presence of a sty²²⁶ background significantly enhances ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

A sty²²⁶ background enhances the csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) rough eye phenotype, with the number of R7 in each ommatidium increasing.

The presence of a Egfr^t1 background significantly suppresses ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

A Egfr^t1 background suppresses the csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) rough eye phenotype, normalizing the numbers of R7 and ommatidial rotation.

The presence of a drk^e0A background does not affect ectopic wing vein formation in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

The presence of a spi¹ background causes minor suppression of ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

The presence of a vn^C221 background causes minor suppression of ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

The presence of a argos^Δ7 background significantly enhances ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

The presence of a S^IIN background significantly suppresses ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

A S^IIN background suppresses the csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) rough eye phenotype, normalizing the numbers of R7 and ommatidial rotation.

The presence of a Sos^34Ea-6 background significantly suppresses ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

The presence of a Ras85D^e1B background significantly suppresses ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

A Ras85D^e1B background suppresses the csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) rough eye phenotype, normalizing the numbers of R7 and ommatidial rotation.

The presence of a Gap1^B2 background significantly enhances ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

The presence of a rl^10a background significantly suppresses ectopic wing vein formation found in csw^{Y279C.Scer\UAS} (Scer\GAL4^tub) mutants.

(Oishi et al., 2009)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

csw^Y279C.UASp is rescued by csw^R465M.UASp/Scer\GAL4^Tub.PU

(Oishi et al., 2009)

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^{Y279C.Scer\UAS.P\T}

csw^{Y279C.Scer\UAS}

csw^Y279C.UASp

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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