FB2024_03 , released June 25, 2024
Allele: Dmel\Npc1bR9-28
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General Information
Symbol
Dmel\Npc1bR9-28
Species
D. melanogaster
Name
FlyBase ID
FBal0006279
Feature type
allele
Associated gene
Dmel\Npc1b
Associated Insertion(s)
Carried in Construct
Also Known As
R-9-28
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Perrimon et al., 1989)
Progenitor genotype
Cytology
Description

Amino acid replacement: ?289term.

(Voght et al., 2007)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:20,935,818..20,935,818 [+]
Nucleotide change:

G20935818A

Amino acid change:

W289term | Npc1b-PA

Reported amino acid change:

?289term

Comment:

G to A nucleotide change at the second or third position of the wild type Trp codon leads to a nonsense mutation (exact site of mutation unspecified). The mutation was annotated at the second base of the codon.

(Voght et al., 2007)
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)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Npc1b1/Npc1bR9-28 animals die at the second instar larval stage and are able to survive for at least a week as second instar larvae.

      The ratio of absorbed cholesterol:glucose is severely reduced in Npc1b1 first instar larvae relative to wild type.

      (Voght et al., 2007)

      The l(1)19Ec8 allele interacts with shakB3 and shakB1; the response to sucrose of shakB3 l(1)19Ec8 flies is comparable to shakB3 homozygotes and the response to sucrose of shakB2 l(1)19Ec8 flies is intermediate between that of shakB2 heterozygotes and homozygotes.

      (Balakrishnan and Rodrigues, 1991)

      l(1)19Ec-/shakB- heterozygotes are fully viable and exhibit no neuronal defects.

      (Baird et al., 1990)

      Homozygous germline clones display rescuable maternal effect lethality. Embryos derived from heterozygous mothers exhibit head and dorsal closure defects.

      (Perrimon et al., 1989)

      Maternal germline clonal analysis demonstrates a maternal effect, twisted embryos with holes in the cuticle. This phenotype is rescuable by introduction of the wild-type copy of the gene from the father.

      (Perrimon et al., 1989)
      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
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer

      Lifschytz.

      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (7)
      Reported As
      Symbol Synonym
      NPC1bR9-28
      (Voght et al., 2007)
      Npc1bR9-28
      R-9-28
      (Balakrishnan and Rodrigues, 1991, Perrimon et al., 1989, Kramers et al., 1983, Lifschytz and Falk, 1969)
      R-9-28R9-28
      (Perrimon et al., 1989)
      l(1)19Ec8
      (Popodi et al., 2010-)
      l(1)19EcR-9-28
      (Baird et al., 1990)
      l(1)R-9-28
      (Munoz, 2004.1.5, Munoz, 2004.1.5, Munoz, 2003.12.10, Miklos et al., 1986)
      Name Synonyms
      Secondary FlyBase IDs
      • FBal0031600
      References (13)