FB2024_03 , released June 25, 2024
Allele: Hsap\MECP2R106W.UAS
Open Close
General Information
Symbol
Hsap\MECP2R106W.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0294766
Feature type
allele
Associated gene
Hsap\MECP2
Associated Insertion(s)
Carried in Construct
P{UAS-MeCP2.R106W}
Also Known As
UAS-hMeCP2R106W
Key Links
Transgenic product class
missense_variant
(Cukier et al., 2008)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Cukier et al., 2008)
Mutagen
in vitro construct
(Cukier et al., 2008)
Progenitor genotype
Carried in construct
P{UAS-MeCP2.R106W}
Cytology
Description

UASt regulates expression of a full length cDNA of the Hsap\MECP2 e2 isoform (1461 nt, 486 aa) containing a R106W missense mutation within the methyl-CpG-binding domain that eliminates the protein's ability to bind DNA.

(Cukier et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
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
      (Hess-Homeier et al., 2014)
      DOES NOT model  central nervous system disease
      CEA
      (Gupta et al., 2016)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      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.Arg106Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      MECP2:p.Arg13Trp
      MECP2:p.Arg118Trp
      Associated human disease model(s)
      External database links
      ClinVar: MECP2_11814
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\MECP2R106W.Scer\UAS driven by Scer\GAL4elav-C155 does not cause obvious dendritic defects in MN5 motoneurons.

      (Williams et al., 2016)

      Expression of Hsap\MECP2R106W.Scer\UAS in MN5 motoneurons (via Scer\GAL4futsch-C380 and Scer\GAL80Cha.3.3P) does not cause any obvious dendritic defects.

      (Vonhoff et al., 2012)

      Expression via Scer\GAL4GMR.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.

      (Cukier et al., 2008)
      External Data
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\MECP2R106W.Scer\UAS
      Hsap\MECP2R106W.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (6)