FB2024_03 , released June 25, 2024
Allele: Hsap\UBQLN2P4X.UAS
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General Information
Symbol
Hsap\UBQLN2P4X.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0343218
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulates expression of a quadruple mutant Hsap\UBQLN2 bearing the clinically validated ALS-associated mutations P497H, P506T, P509S, and P525S.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
is ameliorated by unc-5HMS01099
is ameliorated by unc-5KK102074
is exacerbated by Rab5HMS00147
is exacerbated by Rab5JF03335
is ameliorated by Rab5UAS.EGFP
is ameliorated by beat-Ibf04746
is ameliorated by fraJF01231
is ameliorated by fraJF01457
is ameliorated by unc-53
is ameliorated by unc-58
is ameliorated by unc-5GD3510
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression from two copies of Hsap\UBQLN2P4X.UAS under the control of Scer\GAL4GMR.PF does not have an obvious eye phenotype (namely in number of bristles or in eye pigmentation). Expression under the control of Scer\GAL4elav.PLu leads to climbing defects in adults and to small bouton sizes at the third instar larval neuromuscular junction.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
NOT Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
Other
Statement
Reference
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
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 (1)
Reported As
Symbol Synonym
Hsap\UBQLN2P4X.UAS
Name Synonyms
Secondary FlyBase IDs
    References (2)