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General Information
Symbol
Dmel\SmoxMB388
Species
D. melanogaster
Name
FlyBase ID
FBal0144565
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dSmad2mb388, Smad2mb388
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G8139785A

Amino acid change:

E300K | Smox-PA; E300K | Smox-PB

Reported amino acid change:

E300K

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

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

Amino acid replacement: E300K. The mutation is within the N terminal MH1 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 ( 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

SmoxMB388 mutant larvae display enlarged anal pads. Central nervous system hypotrophy is seen at the late third instar larval stage.

Homozygous clones in the wing do not result in a mutant phenotype.

Late third instar SmoxMB388 larvae show photoreceptor axon targeting defects. The number of glia in the medulla and lamina is reduced.

The number of cells in M phase in the developing optic lobes is significantly reduced in SmoxMB388 third instar larvae compared to controls. The size of the outer proliferation center and inner proliferation center zones is reduced in these larvae, although they still contain many cells in S phase. The ratio of M-phase cells to S-phase cells is thus reduced in the mutant optic lobes compared to wild type.

SmoxMB388 embryos show axon guidance defects; 21% of hemisegments have ISNb pathfinding defects and 7% show loss of lateral or dorsal branches.

Photoreceptor R1-R6 axons project into the brain and form a relatively normal but very reduced lamina in SmoxMB388 mutant larvae, but R7 and R8 axons never form a normal lattice network and their growth cones are collapsed. The medulla neuropil is significantly reduced in size and altered in morphology in the mutant larvae.

When single cell mutant clones in adult γ neurons, abnormal projection patterns are seen. Mutant neurons possess two major axonal branches that project perpendicularly away from each other, as in larval γ projections. Wild-type patterns of dendrites and axons are seen in mutant γ neurons before puparium formation. However pruning of larval dendrites and axons does not happen to mutant neurons during early metamorphosis, persisting to adult stages.

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
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (8)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (8)