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General Information
Symbol
Hsap\MECP2R294X.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0294767
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-R294X
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

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.

Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
model of  Rett syndrome
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
MECP2:p.Arg294Ter
Variants Synonym(s)
MECP2:p.Arg201Ter
MECP2:p.Arg306Ter
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\MECP2R294X.Scer\UAS under the control of Scer\GAL4futsch-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\GAL80ChAT.3.3P results in flightlessness.

Expression via Scer\GAL4GMR.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.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
NOT Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Expression of Hsap\MECP2R294X.Scer\UAS under the control of Scer\GAL4futsch-C380 (and Scer\GAL80ChAT.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 slp1Scer\UAS.cUa.

Complementation and Rescue Data
Comments

The apoptosis of motoneurons MN5 in the pupal nerve cord observed upon expression of Hsap\MECP2R294X.Scer\UAS under the control of Scer\GAL4futsch-C380 is not suppressed by co-expression of Hsap\MECP2Scer\UAS.FL.

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\MECP2R294X.Scer\UAS
Hsap\MECP2R294X.UAS
Name Synonyms
Secondary FlyBase IDs
    References (4)