FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\LanB1C480R.UAS.Tag:HA
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General Information
Symbol
Dmel\LanB1C480R.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0408752
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulatory sequences drive expression of the LanB1 open reading frame, mutated to carry a C480R amino acid substitution. This change is analagous to a C460R change in the orthologous human LAMB1 gene, a pathogenic variant associated with LAMB1-related leukoencephalopathy. The coding sequence is tagged at the C-terminal end with three copies of Tag:HA. The human ORF is flanked by a pair of incompatible FRT sites (FRT5 and FRT2), which allows for future in vivo exchange of either the promoter or tag sequence.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

T7816385C

Amino acid change:

C480R | LanB1-PA; C480R | LanB1-PB

Reported amino acid change:

C480R

Comment:

Analogous mutation in human LAMB1 implicated in LAMB1-related leukoencephalopathy and lissencephaly; mutation carried on in vitro construct; site and nature of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
LAMB1:p.Cys460Arg
Variants Synonym(s)
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
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
LanB1C480R.UAS.Tag:HA
Name Synonyms
Secondary FlyBase IDs
    References (2)