FB2026_02 , released June 18, 2026
Allele: Hsap\TM2D3P155L.amx
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General Information
Symbol
Hsap\TM2D3P155L.amx
Species
H. sapiens
Name
FlyBase ID
FBal0338085
Feature type
allele
Associated gene
Hsap\TM2D3
Associated Insertion(s)
Carried in Construct
PBac{amx-hTM2D3.P155L}
Key Links
Transgenic product class
missense_variant
(Jakobsdottir et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Jakobsdottir et al., 2016)
Mutagen
in vitro construct
(Jakobsdottir et al., 2016)
Progenitor genotype
Carried in construct
PBac{amx-hTM2D3.P155L}
Cytology
Description

Genomic fragment (coordinates X:9245044..9248369 , release 6 genome) encompassing the amx transcription unit in which the amx coding region has been replaced by the Hsap\TM2D3 variant 1 coding sequence (derived from cDNA clone NM_078474), allowing expression of the human gene under the control of amx regulatory sequences. In addition, the Hsap\TM2D3 coding sequence has been mutated to carry the P155L variant that is associated with increased risk and earlier onset of late-onset Alzheimer's disease.

(Jakobsdottir et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
amx
Encoded product / tool
Hsap\TM2D3
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The P155L missense mutation in the human TM2D3 gene has been associated with increased risk of Alzheimer's disease in Icelandic population. Inserting Hsap\TM2D3P155L.amx in a amx-deficient flies, amx being the fly homolog of TM2D3, fails to rescue the neurogenic maternal-effect phenotype in their progeny, demonstrating the loss of function effect of the P155L mutation.

      (Jakobsdottir et al., 2016)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Jakobsdottir et al., 2016)
      TM2D3:p.Pro155Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      NOT Suppressor of
      Statement
      Reference

      Hsap\TM2D3P155L.amx is a non-suppressor of female sterile phenotype of amx1/Df(1)Exel9049

      (Jakobsdottir et al., 2016)
      Phenotype Manifest In
      NOT Suppressor of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The sterility of amx1/Df(1)Exel9049 mutant females and the neurogenic phenotype seen in the progeny (the embryos contain dramatically increased number of neurons and fail to hatch) cannot be rescued by combination with Hsap\TM2D3P155L.amx.

      (Jakobsdottir 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 (1)
      Reported As
      Symbol Synonym
      Hsap\TM2D3P155L.amx
      Name Synonyms
      Secondary FlyBase IDs
        References (2)