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General Information
Symbol
Hsap\TBX2R305H.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0344790
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
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 Hsap\TBX2 cDNA in which the coding sequence has been mutated to carry the R305H amino acid replacement (a potentially deleterious mutation identified as a candidate for the phenotype in an individual affected by a multisystem malformation disorder). The endogenous stop codon is present, thus even though three copies of the Tag:HA tag are present downstream of the ORF, they are not expected to form part of the translated protein.

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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expressing Hsap\TBX2R305H.UAS under the control of Scer\GAL4ey.PH has no effect on eye size in the great majority of adults. Expression under the control of Scer\GAL4ninaE.PT causes reduced synaptic transmission and phototransduction defects in eye photoreceptor cells, without affecting the prolonged depolarizing afterpotential (PDA).

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 (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Symbol Synonym
Hsap\TBX2R305H.UAS
Name Synonyms
Secondary FlyBase IDs
    References (1)