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General Information
Symbol
Hsap\NF2R466X.UAS.Tag:FLAG
Species
H. sapiens
Name
FlyBase ID
FBal0318542
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
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 regulatory sequences drive expression of a mutated form of Hsap\NF2 isoform 1 (contains the a stop codon in place of residue R466), that is tagged at the N-terminal end with Tag:FLAG.

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 ( 0 )
Disease
Evidence
References
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.
NF2:p.Arg466Ter
Variants Synonym(s)
NF2:p.Arg383Ter
NF2:p.Arg424Ter
NF2:p.Arg425Ter
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressor of
Statement
Reference
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Scer\GAL4T80 expression of two copies of Hsap\NF2R466X.Scer\UAS.T:Zzzz\FLAG partially suppresses lethality (approximately 11% rescue) in Mer4/y male flies; one copy completely fails to suppress lethality (0%).

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 (3)
Reported As
Symbol Synonym
Hsap\NF2R466X.Scer\UAS.T:Zzzz\FLAG
Hsap\NF2R466X.UAS.Tag:FLAG
Name Synonyms
Secondary FlyBase IDs
    References (2)