FB2026_02 , released June 18, 2026
Recombinant Construct: P{UAS-hPNPLA6.F2M1}
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General Information
Symbol
P{UAS-hPNPLA6.F2M1}
FlyBase ID
FBtp0112914
Feature type
transgenic_transposable_element
Component Allele(s)
Hsap\PNPLA6F2M1.UAS
Size
Expression Data
Associated insertion(s)
1 available
Molecular map
Description and Uses
Construct components
Component allele Hsap\PNPLA6F2M1.UAS
Transgenic product class
frameshift_truncation
(Topaloglu et al., 2014)
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\PNPLA6
Description

UAS regulatory sequences drive expression of Hsap\PNPLA6 carrying the 'F2M1' mutation (insertion at nucleotide residue 1127, leading to a frameshift and premature stop codon) that has been identified in this gene in patients with Gordon Holmes syndrome. The resulting protein is predicted to lack the entire catalytic domain and the C-terminal part of the regulatory domain.

(Topaloglu et al., 2014)
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)
descendant(s)
Comments
Stocks (0)
Stocks containing insertion(s) of this recombinant construct
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Symbol Synonym
P{UAS-hPNPLA6.F2M1}
(FlyBase, 1992-)
Secondary FlyBase IDs
    References (4)