FB2025_01 , released February 20, 2025
Allele: Hsap\LMNAprogerin.UAS.A
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General Information
Symbol
Hsap\LMNAprogerin.UAS.A
Species
H. sapiens
Name
FlyBase ID
FBal0294087
Feature type
allele
Associated gene
Hsap\LMNA
Associated Insertion(s)
Carried in Construct
P{UAS-LMNA.A.progerin}
Key Links
Transgenic product class
inframe_deletion
(Beard et al., 2008)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Beard et al., 2008)
Mutagen
in vitro construct
(Beard et al., 2008)
Progenitor genotype
Carried in construct
P{UAS-LMNA.A.progerin}
Cytology
Description

UAS regulatory sequences drive expression of the mutant, progerin form of the Hsap\LMNAA isoform.

(Beard et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\LMNA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      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 ( 1 )
      Disease
      Evidence
      References
      model of  progeria
      CEA
      (Beard et al., 2008)
      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.
      (Beard et al., 2008)
      LMNA:p.Val607_Gln656del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      NM_170707.3(LMNA):c.1824C>T (p.Gly608=)
      Associated human disease model(s)
      External database links
      ClinVar: LMNA_14500
      Comments concerning this variant

      In human, synonymous nucleotide change results in use of an upstream cryptic splice, producing a transcript with a 150-nt deletion within the coding region.

      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\LMNAprogerin.Scer\UAS.A under the control of Scer\GAL4Act5C.PU results in lethality during the larval-pupal transition.

      Considerable nuclear breakdown is seen in central nervous system and salivary gland cells in larvae expressing Hsap\LMNAprogerin.Scer\UAS.A under the control of Scer\GAL4Act5C.PU. Herniations and invaginations are seen at the nuclear periphery and severe fragmentation of the nuclei is seen. The defects are more pronounced in the salivary gland cells than in the central nervous system.

      Expression of Hsap\LMNAprogerin.Scer\UAS.A under the control of Scer\GAL4Act5C.Switch.PR during the adult stage (using the presence of RU286 to control the timing of expression) results in a 71% decrease in median lifespan compared to controls.

      (Beard et al., 2008)
      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 (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\LMNAprogerin.Scer\UAS.A
      Hsap\LMNAprogerin.UAS.A
      Name Synonyms
      Secondary FlyBase IDs
        References (2)