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General Information
Symbol
Dmel\Npc1bR9-28
Species
D. melanogaster
Name
FlyBase ID
FBal0006279
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
R-9-28
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
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.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: ?289term.

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.

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.

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

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

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.

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
Name Synonyms
Secondary FlyBase IDs
  • FBal0031600
References (13)