FlyBase Allele Report: Hsap\MECP2[R294X.UAS]

General Information

Symbol

Hsap\MECP2^R294X.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0294767

Feature type

allele

Associated gene

Hsap\MECP2

Associated Insertion(s)

Carried in Construct

P{UAS-MeCP2.R294X}

Also Known As

UAS-R294X

Key Links

Transgenic product class

stop_gained

(Cukier et al., 2008)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

stop_gained

(Cukier et al., 2008)

Mutagen

in vitro construct

(Cukier et al., 2008)

Progenitor genotype

Carried in construct

P{UAS-MeCP2.R294X}

Cytology

Description

UASt regulates expression of a full length cDNA of the Hsap\MECP2 e2 isoform (1461 nt, 486 aa) containing a R294X mutation that truncates the protein within the transcriptional repression domain but maintains the nuclear localization signal.

(Cukier et al., 2008)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\MECP2

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

model of Rett syndrome

CEA

(Gupta et al., 2016, Williams et al., 2016)

model of central nervous system disease

CEA

(Gupta et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Rett syndrome

is ameliorated by slp1^UAS.cUa

(Williams et al., 2016)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Cukier et al., 2008)

MECP2:p.Arg294Ter

(FlyBase curators, 2019-)

Variants Synonym(s)

MECP2:p.Arg201Ter

MECP2:p.Arg306Ter

Associated human disease model(s)

External database links

ClinVar: MECP2_11819

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal eye color, with Scer\GAL4^GMR.PU

(Cukier et al., 2008)

flightless, with Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P

(Williams et al., 2016)

increased cell death | pupal stage, with Scer\GAL4^futsch-C380

(Williams et al., 2016)

lethal | heat sensitive, with Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(Cukier et al., 2008)

indirect flight muscle motor neuron DLMN5 | pupal stage, with Scer\GAL4^futsch-C380

(Williams et al., 2016)

Detailed Description

Statement

Reference

Expression of Hsap\MECP2^{R294X.Scer\UAS} under the control of Scer\GAL4^futsch-C380 causes apoptosis of the motoneurons 5 (MN5) in the pupal ventral nerve cord, both MN5 somata are completely gone by 1 day post-eclosion. Expression in adults under the same driver but with Scer\GAL80^ChAT.3.3P results in flightlessness.

(Williams et al., 2016)

Expression via Scer\GAL4^GMR.PU does not cause an obvious disruption of the external eye structure, though it does cause loss of pigmentation. Expression at higher temperatures is lethal.

(Cukier et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, enhanceable by Asx[+]/Asx¹

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, enhanceable by osa^UAS.cCa, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, enhanceable by pbl^UAS.cPa, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

NOT Enhanced by

Statement

Reference

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by Smr^e04389/Smr[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by pbl[+]/pbl⁰⁹⁶⁴⁵

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by Scm^e01989/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by Scm^ET50/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by Scm^UAS.Tag:HA, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by trx[+]/trx¹

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-enhanceable by trx^KG04195/trx[+]

(Cukier et al., 2008)

Suppressed by

Statement

Reference

Hsap\MECP2^R294X.UAS, Scer\GAL4^futsch-C380 has increased cell death | pupal stage phenotype, suppressible | partially by slp1^UAS.cUa

(Williams et al., 2016)

Hsap\MECP2^R294X.UAS, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has flightless phenotype, suppressible | partially by slp1^UAS.cUa

(Williams et al., 2016)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Smr^e04377/Smr[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Asx[+]/Asx^EY07384

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Asx^XF23/Asx[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by corto^07128b/corto[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by corto[+]/corto^c03244

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by corto^e02822/corto[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by osa⁰⁰⁰⁹⁰/osa[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by osa[+]/osa³⁰⁸

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by osa[+]/osa^EY09619

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by pbl[+]/pbl²

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by pbl[+]/pbl³

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by pbl[+]/pbl⁵

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Scm^D1/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Scm[+]/Scm^M36

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Scm^M56/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Scm⁴/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by trc^UAS.cUa, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by trx[+]/trx^E2

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by crol^c04670/crol[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by crol[+]/crol^e04017

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, suppressible by Sin3A[+]/Sin3A^dQ4

(Cukier et al., 2008)

NOT suppressed by

Statement

Reference

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by Smr^e04389/Smr[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by pbl[+]/pbl⁰⁹⁶⁴⁵

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by Scm^e01989/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by Scm^ET50/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by Scm^UAS.Tag:HA, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by trx[+]/trx¹

(Cukier et al., 2008)

Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU has abnormal eye color phenotype, non-suppressible by trx^KG04195/trx[+]

(Cukier et al., 2008)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\MECP2^R294X.UAS, Scer\GAL4^futsch-C380 has indirect flight muscle motor neuron DLMN5 | pupal stage phenotype, suppressible | partially by slp1^UAS.cUa

(Williams et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\MECP2^{R294X.Scer\UAS} under the control of Scer\GAL4^futsch-C380 (and Scer\GAL80^ChAT.3.3P for adult flight assays) leads to apoptosis of motoneurons 5 in the pupal ventral nerve cord and inability of the adult flies to initiate flight; both these phenotypes can be partially rescued by co-expression of slp1^Scer\UAS.cUa.

(Williams et al., 2016)

Complementation and Rescue Data

Not rescued by

Hsap\MECP2^R294X.UAS is not rescued by Scer\GAL4^futsch-C380/Hsap\MECP2^UAS.FL

(Williams et al., 2016)

Comments

The apoptosis of motoneurons MN5 in the pupal nerve cord observed upon expression of Hsap\MECP2^{R294X.Scer\UAS} under the control of Scer\GAL4^futsch-C380 is not suppressed by co-expression of Hsap\MECP2^Scer\UAS.FL.

(Williams et al., 2016)

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

Hsap\MECP2^{R294X.Scer\UAS}

Hsap\MECP2^R294X.UAS

Name Synonyms

Secondary FlyBase IDs

References (4)

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