FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Recombinant Construct: PBac{UAS-hFRMD5.F114L}
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General Information
Symbol
PBac{UAS-hFRMD5.F114L}
FlyBase ID
FBtp0157099
Feature type
transgenic_transposable_element
Component Allele(s)
Hsap\FRMD5F114L.UAS
Size
Expression Data
Associated insertion(s)
2 available
Molecular map
Description and Uses
Construct components
Component allele Hsap\FRMD5F114L.UAS
Transgenic product class
missense_variant
(Lu et al., 2022)
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\FRMD5
Description

UAS regulates expression of a Hsap\FRMD5 cDNA corresponding to GenBank transcript NM_032892.5, encoding isoform 2 (the longest isoform) bearing a c.340T>C (p.Phe114Leu) missense variant from a proband presenting with developmental delay, intellectual disability, ataxia, seizures, and abnormalities of eye movement.

(Lu et al., 2022)
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 (3)
Reported As
Symbol Synonym
PBac{UAS-hFRMD5.F114L}
(FlyBase, 1996-)
PBac{UAS-hFRMD5.T340C}
(FlyBase, 1992-)
UAS-FRMD5 c.340T>C
(Lu et al., 2022)
Secondary FlyBase IDs
    References (4)