FB2024_03 , released June 25, 2024
Allele: Dmel\spinP
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General Information
Symbol
Dmel\spinP
Species
D. melanogaster
Name
FlyBase ID
FBal0118118
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: W341term.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

G16132566A

Amino acid change:

W341term | spin-PA; W341term | spin-PB; W341term | spin-PC; W341term | spin-PD; W341term | spin-PE

Reported amino acid change:

W341term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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

The following heterozygotes show small amounts of adult escapers, depending on culture conditions: spinP/spinΔ31, spinP/spinΔ86, spinP/spinΔ29 and spinP/spinΔ2b. Adult escapers exhibit progressive locomotor defects, such as difficulty in righting after a fall. These defects worsen during the days after emergence and result in death within 5-12 days. The escapers appear morphologically normal except for a subtle, completely penetrant extra wing vein phenotype.

Electroretinogram (ERG) recordings from the eyes of <4-day-old spinP/spinΔ86 adult escapers show a depolarization in response to light similar to controls but lack on/off transients and exhibit slowed repolarization.

The brains of spinP/spinΔ86 escapers show severe neuronal loss characterized by a significant decrease in the number of neuronal cell bodies and severe vacuolization in cortical brain layers. The layered architecture of the visual lobe is disrupted and the medulla does not undergo its normal rotation with respect to the antero-posterior axis. The eyes of 4-day-old spinP/spinΔ86 flies show a loss of retinal structural integrity associated with the accumulation of PAS-positive carbohydrate granules. This defect is not observed in 1-day-old spinP/spinΔ86 flies.

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 (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
l(2)W5P
spinP
Name Synonyms
Secondary FlyBase IDs
    References (2)