FB2026_03 , released September 17, 2026
Allele: Dmel\Pmm2F125L
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General Information
Symbol
Dmel\Pmm2F125L
Species
D. melanogaster
Name
FlyBase ID
FBal0346309
Feature type
allele
Associated gene
Dmel\Pmm2
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Mast and DiPrimio, 2019.3.12)
gene targeting by homologous recombination
(Mast and DiPrimio, 2019.3.12)
Progenitor genotype
Cytology
Description

Amino acid replacement F125L in Pmm2. This change is designed to mimic the F119L change found in human PMM2 in patients with Congenital disorder of glycosylation, type 1a. The F125L change was inserted along with a Disc\RFPDsRed.3xP3.cUa marker flanked by PBac ends that was then removed via PBac transposition.

(Mast and DiPrimio, 2019.3.12)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:12,535,027..12,535,027 [+]
Nucleotide change:

T12535027C

Amino acid change:

F125L | Pmm2-PA

Reported amino acid change:

F125L

Comment:

Analogous F119L mutation in human PMM2 implicated in Congenital disorder of glycosylation, type 1a; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change. The F to L mutation was mapped to the first base of the codon (TTT to CTT) but may be TTT to TTR; the specific nucleotide change was unspecified. The F125L change was inserted along with a Disc\RFPDsRed.3xP3.cUa marker flanked by PBac ends that was then removed via PBac transposition.

(Mast and DiPrimio, 2019.3.12)
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 ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Mast and DiPrimio, 2019.3.12)
      PMM2:p.Phe119Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: PMM2_7711
      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
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Pmm2F125L
      (Mast and DiPrimio, 2019.3.12)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)