FB2024_03 , released June 25, 2024
Allele: Dmel\AlkF1251L
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General Information
Symbol
Dmel\AlkF1251L
Species
D. melanogaster
Name
FlyBase ID
FBal0376567
Feature type
allele
Associated gene
Dmel\Alk
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

gain of function allele

Mutagen
Nature of the Allele
Allele class

gain of function allele

(Pfeifer et al., 2022)
Mutagen
CRISPR/Cas9
(Pfeifer et al., 2022)
gene targeting by homologous recombination
(Pfeifer et al., 2022)
Progenitor genotype
Cytology
Description

Amino acid replacement: F1251L.

(Pfeifer et al., 2022)

The F1251L change is equivalent to a F1174L change in the orthologous human ALK gene, a variant identified in neuroblastoma patients.

(Pfeifer et al., 2022)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:16,630,428..16,630,428 [-]
Nucleotide change:

T16630428C

Reported nucleotide change:

T?C

Amino acid change:

F1251L | Alk-PA; F1251L | Alk-PB

Reported amino acid change:

F1251L

Comment:

Analogous mutation in human ALK implicated in neuroblastoma. Additional silent substitutions were introduced.

(Pfeifer et al., 2022)
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  neuroblastoma
      CEA
      (Pfeifer et al., 2022)
      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.
      (Pfeifer et al., 2022)
      ALK:p.Phe1174Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ALK:p.Phe106Leu
      Associated human disease model(s)
      External database links
      ClinVar: ALK_217849
      Comments concerning this variant
      Phenotypic Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Other
      Statement
      Reference

      AlkF1251L, jebweli has lethal phenotype

      (Pfeifer et al., 2022)
      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 (1)
      Reported As
      Symbol Synonym
      AlkF1251L
      (Pfeifer et al., 2022)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)