FB2025_01 , released February 20, 2025
Recombinant Construct: M{UAS-hPDK2.R120Q}
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General Information
Symbol
M{UAS-hPDK2.R120Q}
FlyBase ID
FBtp0147913
Feature type
transgenic_transposable_element
Component Allele(s)
Hsap\PDK2R120Q.UAS
Size
Expression Data
Associated insertion(s)
1 available
Molecular map
Description and Uses
Construct components
Component allele Hsap\PDK2R120Q.UAS
Transgenic product class
missense_variant
(Celniker and Bellen, 2017-)
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\PDK2
Description

UASt regulatory sequences drive expression of the Hsap\PDK2 open reading frame. 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. The ORF (originally amplified from the IOH45136 clone) has been mutated to carry p.R120Q (c.359G>A), a variant associated with Autism Spectrum disorder (PMID:25363768).

(Celniker and Bellen, 2017-)
Sequence Data
Sequence (FB)
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA Sequence
Extent
Segments and Size
Total Size
Left end
Right end
 
Segments
Num
Orientation
Symbol
Reference
Phenotypic Data
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Progenitors and Descendants
progenitor(s)
pUASg-HA.attB
(Celniker and Bellen, 2017-)
descendant(s)
Comments
Stocks (1)
Stocks containing insertion(s) of this recombinant construct
Bloomington
92962
y1 w*; M{UAS-hPDK2.R120Q}ZH-86Fb
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
M{UAS-hPDK2.R120Q}
(FlyBase, 1996-)
UAS-PDK2.R120Q
(Marcogliese et al., 2022)
Secondary FlyBase IDs
    References (3)