FB2024_03 , released June 25, 2024
Allele: Dmel\shv1
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General Information
Symbol
Dmel\shv1
Species
D. melanogaster
Name
FlyBase ID
FBal0319440
Feature type
allele
Associated gene
Dmel\shv
Associated Insertion(s)
P{lacZ}shv1
Carried in Construct
Key Links
Allele class

loss of function allele

Mutagen
    Nature of the Allele
    Allele class

    loss of function allele

    (Lee et al., 2016)
    Mutagen
    Progenitor genotype
    Associated Insertion(s)
    P{lacZ}shv1
    Cytology
    Description
    Allele components
    Component
    Use(s)
    Inserted element
    P{lacZ}
    Encoded product / tool
    lacZ
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    Variant Molecular Consequences
    Associated Sequence Data
    DDBJ / EMBL / GenBank
    DNA sequence
    Protein sequence
     
    UniProtKB/Swiss-Prot
      UniProtKB/TrEMBL
        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

        shv1 mutant third instar larvae show a synapse overgrowth phenotype with an increase in the number of synaptic boutons as well as immature undifferentiated 'ghost boutons' on the neuromuscular junctions and also display a decrease in the miniature (but not evoked) excitatory postsynaptic potential (EPSP) amplitude. Unlike in wild-type, high K[+] stimulation in shv1 mutants does not significantly increase further the number of ghost boutons. Unlike in wild-type, high K[+] stimulation in shv1 mutants fails to induce a significant further increase in the number of ghost boutons and neither does it increase the bouton size. Similarly, the bouton size is also not increased upon high frequency (10Hz) nerve stimulation.

        Ex vivo incubation of shv1 neuromuscular junctions with purified wild-type (but a mutated version harboring mutation in the integrin-binding domain) shv protein in the absence of synaptic stimulation is sufficient to increase bouton size, as it is in control NMJs.

        (Lee et al., 2017)

        shv1/shv1 mutants display male sterility and age-dependent decrease in testes size, with age-dependent loss of the hub structure. By 35 days of age, around 50% of mutant testes show a complete loss of hub cells) compared to wild type of heterozygotic controls (all still contain a hub). At 3 days post eclosion, shv1/shv1 mutants show a significant increase in hub cell number compared to controls or heterozygotes but show a significant decrease at 7, 14 and 35 days post eclosion. shv1/shv1 third instar larval testes show a normal number of hub cells and germline stem cells (GSCs) compared to controls. Almost 60% of hub cells appear 'pulled' and frequently do not localize at the apical tip in shv1/shv1 young flies (around 15% in shvc00496/shv1, around 60% in shv9803/shv1), compared to no 'pulled' cells in controls. shv1/shv1 testes have significantly fewer GSCs compared to controls at 3, 7, 14 and 35 days post eclosion (shv1/+ heterozygotes have significantly fewer GSCs compared to controls only at 35 days). shvc00496/shv1 or shv9803/shv1 testes of 3 day old flies have significantly fewer GSCs compared to controls. shv1/shv1 testes have slightly but significantly fewer cyst stem cells than controls or heterozygotes. shv1/shv1 testes show hub mislocalization (significant increase in distance from the tip to the hub compared to controls).

        (Lee et al., 2016)
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        NOT Enhanced by
        Statement
        Reference

        shv1 has abnormal neuroanatomy | third instar larval stage phenotype, non-enhanceable by mysts1/mysts1

        (Lee et al., 2017)
        NOT suppressed by
        NOT Enhancer of
        Statement
        Reference

        shv1/shv1 is a non-enhancer of abnormal neuroanatomy | third instar larval stage phenotype of mysts1

        (Lee et al., 2017)
        Phenotype Manifest In
        NOT Enhanced by
        Statement
        Reference

        shv1 has NMJ bouton | third instar larval stage phenotype, non-enhanceable by mysts1/mysts1

        (Lee et al., 2017)

        shv1 has germinal proliferation center hub phenotype, non-enhanceable by mysts1/mysts1

        (Lee et al., 2016)
        Suppressed by
        NOT suppressed by
        NOT Enhancer of
        Statement
        Reference

        shv1/shv1 is a non-enhancer of NMJ bouton | third instar larval stage phenotype of mysts1

        (Lee et al., 2017)

        shv1/shv1 is a non-enhancer of germinal proliferation center hub | heat sensitive phenotype of mysts1

        (Lee et al., 2016)
        Additional Comments
        Genetic Interactions
        Statement
        Reference

        shv1;mysts1 double mutant third instar larvae display a synaptic overgrowth phenotype (increased number of boutons and immature, undifferentiated 'ghost boutons') that is comparable in severity to those observed in each of the mutants alone.

        Expression of mysScer\UAS.cUa under the control of either Scer\GAL4nSyb.PS or Scer\GAL4how-24B cannot rescue the increased number of boutons on neuromuscular junctions characteristic for shv1 mutant third instar larvae.

        (Lee et al., 2017)

        mysts1/mysts1; shv1/+ or mysts1/mysts1; shv1/shv1 testes (at 29[o]C) show similar hub mislocalization phenotypes (increased distance from tip to hub compared to controls) as either single mysts1/mysts1 or shv1/shv1 mutant alone. Expression of mysScer\UAS.cUa driven by Scer\GAL4C833 partially suppresses the hub mislocalization phenotype in shv1/shv1 testes. Expression of shgScer\UAS.P\T.T:Avic\GFP driven by Scer\GAL4C833 partially suppresses the percentage of pulled or mislocalized hub cells and prevents germinal stem cell loss in shv1/shv1 testes.

        (Lee et al., 2016)
        Xenogenetic Interactions
        Statement
        Reference
        Complementation and Rescue Data
        Rescued by

        shv1 is rescued by shvUAS.Tag:HA/Scer\GAL4nSyb.PS

        (Lee et al., 2017)

        shv1 is rescued by shvUAS.Tag:HA/Scer\GAL4C833

        (Lee et al., 2016)

        shv1 is rescued by Scer\GAL4C587/shvUAS.Tag:HA

        (Lee et al., 2016)
        Partially rescued by

        shv1 is partially rescued by Scer\GAL4VP16.nanos.UTR/shvUAS.Tag:HA

        (Lee et al., 2016)
        Not rescued by

        shv1 is not rescued by Scer\GAL4how-24B/shvUAS.Tag:HA

        (Lee et al., 2017)

        shv1 is not rescued by shvNoSP.UAS.Tag:HA/Scer\GAL4nSyb.PS

        (Lee et al., 2017)

        shv1 is not rescued by shvUAS.Tag:HA/Scer\GAL4upd1.PU

        (Lee et al., 2016)
        Comments

        Expression of shvScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4nSyb.PS (but not Scer\GAL4how-24B) rescues the increased number of boutons on neuromuscular junctions as well as the decreased miniature excitatory postsynaptic potential amplitude observed in shv1 mutant third instar larvae. On the other hand, Scer\GAL4nSyb.PS-driven expression of shvNoSP.Scer\UAS.T:Ivir\HA1 does not rescue the increased bouton number in shv1 mutants.

        (Lee et al., 2017)

        Expression of shvScer\UAS.cLa driven in hub and cyst cells by Scer\GAL4C833 rescues hub integrity and germline stem cell number (at all ages tested), along with rescuing hub mislocalization, in shv1/shv1 testes. Expression of shvScer\UAS.cLa driven by Scer\GAL4C587 rescues hub integrity and germline stem cell number in shv1/shv1 testes. Expression of shvScer\UAS.cLa driven in hub cells by Scer\GAL4upd1.PU fails to rescue and indeed exacerbates hub integrity in shv1/shv1 testes (at all ages tested). Expression of shvScer\UAS.cLa driven in germ cells by Scer\GAL4nos.UTR.T:Hsim\VP16 partially preserves the hub (at all ages) and protects against decreases in germline stem cell number (except by day 35) in shv1/shv1 testes.

        (Lee et al., 2016)
        Images (0)
        Mutant
        Wild-type
        Stocks (0)
        Notes on Origin
        Discoverer
        Comments
        Comments

        Precise excision of the insertion reverts the mutant phenotype.

        (Lee et al., 2016)
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (1)
        Reported As
        Symbol Synonym
        shv1
        (Lee et al., 2017, Lee et al., 2016)
        Name Synonyms
        Secondary FlyBase IDs
          References (2)