FB2025_01 , released February 20, 2025
Allele: Hsap\LYZF57I.UAS.Tag:SS(nec)
Open Close
General Information
Symbol
Hsap\LYZF57I.UAS.Tag:SS(nec)
Species
H. sapiens
Name
FlyBase ID
FBal0267430
Feature type
allele
Associated gene
Hsap\LYZ
Associated Insertion(s)
Carried in Construct
P{UAS-LYZ.F57I.SS-nec}
Also Known As
F57I
Key Links
Transgenic product class
missense_variant
(Kumita et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Kumita et al., 2012)
Mutagen
in vitro construct
(Kumita et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-LYZ.F57I.SS-nec}
Cytology
Description

UAS regulatory sequences drive expression of a F57I mutant Hsap\LYZ with an insect secretion signal (Tag:SS(nec)) fused to its N-terminus.

(Kumita et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\LYZ
Tagged with
Tag:SS(nec)
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  amyloidosis
      is ameliorated by Hsap\APCSUAS.cAa
      (Helmfors et al., 2016)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Kumita et al., 2012)
      LYZ:p.Phe75Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      LYZ:p.Phe57Ile
      Associated human disease model(s)
      External database links
      ClinVar: LYZ_14377
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\LYZF57I.Scer\UAS.T:SS-nec under the control of Scer\GAL4nSyb.PS significantly decreases median adult lifespan and 25-day-old adults display a significant increase in apoptosis in the brain compared to age-matched controls.

      (Helmfors et al., 2016)

      A significant rough-eye phenotype is observed for flies expressing Hsap\LYZF57I.Scer\UAS.T:SS-nec under the control of Scer\GAL4GMR.PF. For these flies, the normal regular pattern of ommatidia observed in wild-type controls is highly disrupted, and some of the ommatidia are fused together.

      (Kumita et al., 2012)
      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

      The short lifespan and the increased apoptosis levels in the brains of adult flies expressing Hsap\LYZF57I.Scer\UAS.T:SS-nec under Scer\GAL4nSyb.PS are both rescued by co-expression of Hsap\APCSScer\UAS.cAa.

      (Helmfors et al., 2016)
      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 (3)
      Reported As
      Symbol Synonym
      F57I
      (Helmfors et al., 2016)
      Hsap\LYZF57I.Scer\UAS.T:SS-nec
      Hsap\LYZF57I.UAS.Tag:SS(nec)
      Name Synonyms
      Secondary FlyBase IDs
        References (4)