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

General Information

Symbol

Hsap\MECP2^UAS.FL

Species

H. sapiens

Name

FlyBase ID

FBal0294765

Feature type

allele

Associated gene

Hsap\MECP2

Associated Insertion(s)

Carried in Construct

P{UAS-MeCP2.FL}

Also Known As

UAS-MeCP2, UAS-hMeCP2

Key Links

Transgenic product class

cDNA

(Cukier et al., 2008)

wild_type

(Cukier et al., 2008)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

cDNA

(Cukier et al., 2008)

wild_type

(Cukier et al., 2008)

Mutagen

in vitro construct

(Cukier et al., 2008)

Progenitor genotype

Carried in construct

P{UAS-MeCP2.FL}

Cytology

Description

UASt regulates expression of a wild type, full length cDNA of the Hsap\MECP2 e2 isoform (1461 nt, 486 aa).

(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

(Williams et al., 2016)

model of intellectual disability

CEA

(Vonhoff et al., 2012)

model of syndromic X-linked intellectual disability Lubs type

CEA

(Hess-Homeier et al., 2014)

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 kibra^GD7772

(Williams et al., 2016)

model of intellectual disability

is ameliorated by osa⁰⁰⁰⁹⁰

(Vonhoff et al., 2012)

model of central nervous system disease

is ameliorated by MBD-R2^HM05219

(Gupta et al., 2016)

is ameliorated by Tbh^nM18

(Gupta et al., 2016)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

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

(Vonhoff et al., 2012)

abnormal locomotor behavior | adult stage, with Scer\GAL4^ChAT.7.4

(Cukier et al., 2008)

abnormal neuroanatomy, with Scer\GAL4^elav-C155

(Williams et al., 2016)

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

(Williams et al., 2016, Vonhoff et al., 2012)

visible, with Scer\GAL4^GMR.PU

(Kim et al., 2013)

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\MECP2^Scer\UAS.FL driven by Scer\GAL4^elav-C155 (or Scer\GAL4^futsch-C380, along with Scer\GAL80^ChAT.3.3P) causes a significant decrease in dendritic branching (reduces dendritic length and dendritic branch number) in MN5 motoneurons.

(Williams et al., 2016)

Expression of Hsap\MECP2^{R294X.Scer\UAS} under the control of Scer\GAL4^futsch-C380 has no effect on morphology or survival of the motoneurons 5 in the pupal ventral nerve cord.

(Williams et al., 2016)

Overexpression of Hsap\MECP2^Scer\UAS.FL driven by Scer\GAL4^GMR.PU leads to a rough eye phenotype, with ommatidial disorganization.

(Kim et al., 2013)

Expression of Hsap\MECP2^Scer\UAS.FL in MN5 motoneurons (via Scer\GAL4^futsch-C380 and Scer\GAL80^Cha.3.3P) significantly impairs new dendrite formation, resulting in a reduction of total dendritic length by 50%. However, membrane excitability, dendritic territory borders, and dendritic branch elongation are unaffected.

Flies expressing Hsap\MECP2^Scer\UAS.FL in MN5 motoneurons (via Scer\GAL4^futsch-C380 and Scer\GAL80^Cha.3.3P) show a significant reduction in mean duration per flight bout and total flight duration compared to controls. In contrast, no difference is seen between groups for MN5 firing patterns or wing beat frequency during flight, or the likelihood to engage in a flight.

(Vonhoff et al., 2012)

Expression via Scer\GAL4^GMR.PU disrupts the external structure of the eye, resulting in a 'glassy' effect on the surface. Ommatidia are disorganized and interommatidial bristles are partially lost.

Expression via Scer\GAL4^C5 produces extra vein tissue around veins L3 and L5.

Expression via Scer\GAL4^Cha.7.4 leads to impaired motor function in adult flies, as measured in a climbing assay.

(Cukier et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\MECP2^UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has abnormal neuroanatomy phenotype, suppressible by kibra^GD7772, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P

(Williams et al., 2016)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has visible phenotype, suppressible | partially by Ube3a[+]/Ube3a^6J

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has visible phenotype, suppressible | partially by Ube3a[+]/Ube3a^15B

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has visible phenotype, suppressible | partially by Ube3a^8O/Ube3a[+]

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has abnormal neuroanatomy phenotype, suppressible by osa⁰⁰⁰⁹⁰/osa[+]

(Vonhoff et al., 2012)

Hsap\MECP2^UAS.FL, Scer\GAL4^ChAT.7.4 has abnormal locomotor behavior | adult stage phenotype, suppressible by osa⁰⁰⁰⁹⁰/osa[+]

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^ChAT.7.4 has abnormal locomotor behavior | adult stage phenotype, suppressible by trc^UAS.cUa, Scer\GAL4^ChAT.7.4

(Cukier et al., 2008)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Sin3A[+]/Sin3A^dQ4

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Scm^UAS.Tag:HA, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by trx[+]/trx¹

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by trx[+]/trx^E2

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by trx^KG04195/trx[+]

(Cukier et al., 2008)

Suppressed by

Statement

Reference

Hsap\MECP2^UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has indirect flight muscle motor neuron DLMN5 phenotype, suppressible by kibra^GD7772, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P

(Williams et al., 2016)

Hsap\MECP2^UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has dendrite phenotype, suppressible by kibra^GD7772, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P

(Williams et al., 2016)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible | partially by Ube3a[+]/Ube3a^6J

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has ommatidium phenotype, suppressible | partially by Ube3a[+]/Ube3a^6J

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible | partially by Ube3a[+]/Ube3a^15B

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has ommatidium phenotype, suppressible | partially by Ube3a[+]/Ube3a^15B

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible | partially by Ube3a^8O/Ube3a[+]

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has ommatidium phenotype, suppressible | partially by Ube3a^8O/Ube3a[+]

(Kim et al., 2013)

Hsap\MECP2^UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has indirect flight muscle motor neuron DLMN5 phenotype, suppressible by osa⁰⁰⁰⁹⁰/osa[+]

(Vonhoff et al., 2012)

Hsap\MECP2^UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^ChAT.3.3P has dendrite phenotype, suppressible by osa⁰⁰⁰⁹⁰/osa[+]

(Vonhoff et al., 2012)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible by pbl[+]/pbl⁰⁹⁶⁴⁵

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible by Scm^e01989/Scm[+]

(Cukier et al., 2008)

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

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible by Scm^ET50/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible by crol^d03416/crol[+]

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^cv-c-C5 has wing vein | increased number phenotype, suppressible by Asx^XF23/Asx[+]

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^cv-c-C5 has wing vein | increased number phenotype, suppressible by osa[+]/osa³⁰⁸

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^cv-c-C5 has wing vein | increased number phenotype, suppressible by osa⁰⁰⁰⁹⁰/osa[+]

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^cv-c-C5 has wing vein | increased number phenotype, suppressible by Scm^ET50/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^cv-c-C5 has wing vein | increased number phenotype, suppressible by Scm⁴/Scm[+]

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^cv-c-C5 has wing vein | increased number phenotype, suppressible by trc^UAS.cUa, Scer\GAL4^cv-c-C5

(Cukier et al., 2008)

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

(Cukier et al., 2008)

Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU has eye phenotype, suppressible by Smr^e04389/Smr[+]

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

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

(Cukier et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of kibra^GD7772 significantly suppresses the decreases in dendritic branch length (fully) and number (partially) in MN5 motoneurons with expression of Hsap\MECP2^Scer\UAS.FL driven by Scer\GAL4^futsch-C380 (along with Scer\GAL80^ChAT.3.3P).

(Williams et al., 2016)

Ube3a^6J/+, Ube3a^15B/+ or Ube3a^8O/+ suppress rough eye phenotypes with ommatidial disorganization in flies with expression of Hsap\MECP2^Scer\UAS.FL driven by Scer\GAL4^GMR.PU.

(Kim et al., 2013)

Introduction of osa⁰⁰⁰⁹⁰/+ significantly increases total MN5 dendritic length and dendritic number above that in the Hsap\MECP2^Scer\UAS.FL, Scer\GAL4^futsch-C380, Scer\GAL80^Cha.3.3P background.

(Vonhoff et al., 2012)

Complementation and Rescue Data

Fails to rescue

Scer\GAL4^futsch-C380/Hsap\MECP2^UAS.FL fails to rescue Hsap\MECP2^R294X.UAS

(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^Scer\UAS.FL

Hsap\MECP2^UAS.FL

Name Synonyms

Secondary FlyBase IDs

References (7)

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