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General Information
Symbol
Dmel\Smn73Ao
Species
D. melanogaster
Name
FlyBase ID
FBal0092881
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
SmnA
Key Links
Mutagen
    Nature of the Allele
    Mutagen
    Mutations Mapped to the Genome
     
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    G16580579A

    Amino acid change:

    G202S | Smn-PA; G202S | Smn-PB

    Reported amino acid change:

    G202S

    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: G202S.

    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 ( 1 )
    Modifiers Based on Experimental Evidence ( 1 )
    Disease
    Interaction
    References
    is exacerbated by Eip75Bd09801
    is exacerbated by Mad12
    is exacerbated by ASPPd05779
    is ameliorated by Atf6c05057
    is ameliorated by Moee02369
    is exacerbated by SKd03336
    is exacerbated by btlf02864
    is ameliorated by ctpf02345
    is ameliorated by mlte00818
    is exacerbated by netf04249
    is exacerbated by sprid05295
    is exacerbated by witUAS.cMa
    is exacerbated by witd02492
    Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
     
    Disease-implicated variant(s)
     
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    SmnX7/Smn73Ao third instar larvae have significantly increased evoked excitatory postsynaptic potential amplitude at the neuromuscular junction.

    Smn73Ao mutant larvae exhibit an aberrant increase in evoked excitatory postsynaptic potential amplitudes at the neuromuscular junction to ~125% of controls.

    Smn73Ao/Smnf01109 third instar larvae show significant decreases in bouton number (per muscle area) compared to either heterozygote (heterozygotes are similar to controls).

    Homozygous larvae are thinner and shorter than control larvae at 4 days after egg laying.

    Homozygous second-third instar larvae show impaired motor function, showing a smaller distance travelled in the 20 seconds after movement was stimulated with a needle than control larvae.

    Most homozygotes die between the second and third larval stages, with less than 10% reaching the third instar larval stage.

    Smn73Ao/Smnf01109 third instar larvae show a reduction in bouton number per muscle area at the neuromuscular junction compared to wild type.

    Homozygous larvae show a progressive loss of mobility and increased uncoordinated movement before death occurs at the late larval stage. Homozygous larvae show a 53 +/- 5% decrease in contraction rate compared to control third instar larvae. Females carrying homozygous germline clones lay only a few eggs, which die at very early stages (between 0 and 4 hours after egg laying at 25oC). Excitatory postsynaptic currents are reduced in amplitude in mutant third instar larvae compared to control animals. Mutant larvae show defects at the neuromuscular junction; an increased number of enlarged boutons is seen.

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

    Cbp20e02787/Smn73Ao or FMRFaKG01300/+;Smn73Ao/+ third instar larvae show significant decreases in the number of boutons per muscle area at the neuromuscular junction, compared to heterozygotes (heterozygotes are similar to wild type).

    Expression of witScer\UAS.cMa under the control of Scer\GAL4elav.PLu in a Smn73Ao/+ background results in a reduction in bouton number per muscle area at the third larval instar neuromuscular junction compared to wild type.

    Smn73Ao/Mad12 double heterozygotes show a reduction in bouton number per muscle area at the third larval instar neuromuscular junction compared to wild type.

    The reduction in bouton number per muscle area at the neuromuscular junction that is seen in Smn73Ao/Smnf01109 third instar larvae is suppressed by Dad271-68/Dad271-68.

    Xenogenetic Interactions
    Statement
    Reference
    Complementation and Rescue Data
    Images (0)
    Mutant
    Wild-type
    Stocks (2)
    Notes on Origin
    Discoverer
    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (6)
    References (10)