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General Information
Symbol
Dmel\spinΔ2b
Species
D. melanogaster
Name
FlyBase ID
FBal0143208
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Cytology
Nature of the lesion
Statement
Reference

Excision of the P{EP} element resulting in a deletion of approximately 5kb from the spin translation start site, removing all the coding sequences within the first exon (includes the N-terminal and first transmembrane domain).

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
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The following transheterozygotes show small amounts of adult escapers, depending on culture conditions: spinΔ2b/spinE14.1, spinΔ29/spinΔ2b, spinΔ31/spinΔ2b, spinΔ86/spinΔ2b and spinΔ2b/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.

Oocytes produced from spinΔ2b germline clones show dramatically enlarged carbohydrate-containing β spheres in the ooplasm, while protein-containing α spheres are similar in size to wild-type oocytes.

The larval NMJ of both spinE14.1/spinΔ2b and spin11F5/spinΔ2b mutants contain abnormal ultrastructural membrane compartments in the cytoplasm of bnch mutant boutons that are not present in wild-type controls. The excitatory junctional potentials (EJPs) produced by abdominal muscles in 1mM ca2+ from spinE14.1/spinΔ2b and spin11F5/spinΔ2b mutants are not significantly different from those produced by wild-type, indicating that exocytosis is not affected in mutants. When motor neurons from the mutants are repetitively stimulated at 10Hz, the amplitude of the EJP measured from spinE14.1/spinΔ2b and spin11F5/spinΔ2b mutants declines to 55-60% of the original response after 10 minutes, while no such decline is observed for wild-type animals. Additionally, spinE14.1/spinΔ2b mutant boutons show a significant decrease in the uptake of FM1-43 dye compared with controls. These results indicate that the mutants have a defect in synaptic vesicle endocytosis.

Mosaic spinΔ2b eyes show no obvious rough eye phenotypes.

Mutation is lethal at the pharate pupal stage. Heterozygotes and spinΔ2b/Df(2R)Jp4 hemizygotes show a significant increase in bouton number at the larval neuromuscular junction (assayed at muscles 6/7 in hemisegment A3) compared to wild type. Average bouton size spinΔ2b/Df(2R)Jp4 animals is not significantly different from wild type. Quantal content at the neuromuscular junction is decreased by approximately 50% compared to wild type in spinΔ2b/Df(2R)Jp4 animals. Quantal size is unaffected.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Other
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Flies that express Hsap\MAPTGMR.Ex.PJ in spinΔ2b/+ mosaic eyes show a mild rough eye phenotype while flies that express Hsap\MAPTGMR.Ex.PJ in spinΔ2b homozygous mosaic eyes show a severe rough eye phenotype.

Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (3)