FB2024_03 , released June 25, 2024
Allele: Dmel\how18
Open Close
General Information
Symbol
Dmel\how18
Species
D. melanogaster
Name
FlyBase ID
FBal0061368
Feature type
allele
Associated gene
Dmel\how
Associated Insertion(s)
Carried in Construct
Key Links
Allele class

loss of function allele

Mutagen
Nature of the Allele
Allele class

loss of function allele

(Zaffran et al., 1997)
Mutagen
Delta2-3 transposase
(Zaffran et al., 1997)
Progenitor genotype
how1A122
(Zaffran et al., 1997)
Cytology
Description

Imprecise excision of the P{lArB} insertion deleting the first two exons and ATG from a position 150bp upstream of the first nucleotide to a position upstream of the third exon.

(Zaffran et al., 1997)
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 ( 1 )
      Disease
      Interaction
      References
      ameliorates  oculopharyngeal muscular dystrophy
      modeled by Hsap\PABPN117ala.Act88F
      (Chartier et al., 2015)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The embryonic muscle is properly formed but the function is disturbed. The head of embryos ready to hatch is immobile. Heart development is normal but the heart rate is considerably slower than normal and the contractions are of a small amplitude. In the heart region of the dorsal vessel the lumen is very narrow indicating it is either blocked in a contracted state or complete differentiation is not effective.

      (Zaffran et al., 1997)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressor of
      Statement
      Reference

      how[+]/how18 is a suppressor of visible phenotype of Hsap\PABPN117ala.Act88F

      (Chartier et al., 2015)
      Phenotype Manifest In
      Suppressor of
      Statement
      Reference

      how[+]/how18 is a suppressor of wing phenotype of Hsap\PABPN117ala.Act88F

      (Chartier et al., 2015)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      how18 suppresses the wing posture defects seen upon expression of Hsap\PABPN117ala.Act88F.

      (Chartier et al., 2015)
      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
      how18
      (Chartier et al., 2015)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)