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General Information
Symbol
Dmel\Tsc129
Species
D. melanogaster
Name
FlyBase ID
FBal0123968
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Mutations Mapped to the Genome
     
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    C24130906T

    Reported nucleotide change:
    Amino acid change:

    Q61term | Tsc1-PA

    Reported amino acid change:

    Q61term

    Comment:

    Site of nucleic acid difference 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

    Nucleotide substitution: C?T.

    Amino acid replacement: Q61term.

    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

    Young Tsc129 mosaic flies (<2 days old) have all seven rhabdomeres, while almost no rhabdomeres are present in the eyes of Tsc129 mosaic flies after 20 hours of light/dark cycling.

    Tsc129 mitotic cell cycle defective clones show an increase in TR-avidin uptake.

    100% of Tsc129 homozygotes die as second instar larvae.

    Tsc129 homozygotes die as first instar larvae, soon after hatching. In somatic clones of Tsc129 in the eye, cell size is increased by a factor of 1.9 compared to their wild-type neighbours.

    Homozygous somatic clones in the eye leads to ommatidia that are larger than wild type. Rhabdomeres are approximately 1.8 times the size of wild-type counterparts in area. However, the organisation of ommatidia and the differentiation of various cell types are nearly normal, with occasional loss of photoreceptor cells. Eye discs that are more than 90% mutant for Tsc1 are 2.9 times the size of wild-type discs in area. Clones in third instar larval imaginal discs have larger nuclei and an increased cell size. Also clones have (up to over 3 times) more cells than their wild-type twin spots. Nucleolus area in clones is also twice the size of neighbouring wild-type cells, but there is no increase in DNA content in these clones - the cells are diploid. Homozygous mutant clones in the wing margin leads to larger wing margin bristles.

    External Data
    Interactions
    Show genetic interaction network for Enhancers & Suppressors
    Phenotypic Class
    Enhanced by
    Statement
    Reference
    Suppressed by
    Statement
    Reference

    Tsc129 has lethal | larval stage phenotype, suppressible | partially by RhebPΔ1/Rheb[+]

    Tsc129 has increased cell size | somatic clone phenotype, suppressible | partially by Tor2L1/Tor[+]

    Tsc129 has lethal | recessive | larval stage phenotype, suppressible | partially by Tor2L1/Tor[+]

    Enhancer of
    Statement
    Reference
    NOT Enhancer of
    Statement
    Reference

    Tsc129/Tsc1[+] is a non-enhancer of partially lethal - majority die phenotype of hpo+t4.0, hpo42-20

    Suppressor of
    Statement
    Reference

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor of decreased body size phenotype of pathKG06640

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor of decreased cell number phenotype of pathKG06640

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor of decreased cell size phenotype of pathKG06640

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor of abnormal developmental rate phenotype of pathKG06640

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor | partially of female sterile phenotype of pathKG06640

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor | partially of decreased fecundity | female phenotype of pathKG06640

    Tsc129 is a suppressor of lethal | recessive | larval stage phenotype of InR35

    Tsc129 is a suppressor of lethal phenotype of InR05545/InR353

    NOT Suppressor of
    Statement
    Reference

    Tsc129/Tsc1[+] is a non-suppressor of partially lethal - majority die phenotype of hpo+t4.0, hpo42-20

    Tsc129/Tsc129 is a non-suppressor of decreased cell size | somatic clone phenotype of Tor2L1

    Other
    Phenotype Manifest In
    NOT Enhanced by
    Statement
    Reference

    Tsc129 has wing margin bristle | somatic clone phenotype, non-enhanceable by gig192

    NOT suppressed by
    Statement
    Reference

    Tsc129 has wing margin bristle | somatic clone phenotype, non-suppressible by gig192

    Enhancer of
    Statement
    Reference

    Tsc129/Tsc1[+] is an enhancer of eye phenotype of Torey.Tag:FLAG

    NOT Enhancer of
    Statement
    Reference

    Tsc129 is a non-enhancer of wing margin bristle | somatic clone phenotype of gig192

    Suppressor of
    Statement
    Reference

    Tsc129, Tsc1[+], gig[+], gig192 is a suppressor of wing phenotype of pathKG06640

    NOT Suppressor of
    Statement
    Reference

    Tsc129 is a non-suppressor of wing margin bristle | somatic clone phenotype of gig192

    Other
    Statement
    Reference
    Additional Comments
    Genetic Interactions
    Statement
    Reference

    The developmental regrowth defect seen in Hr51LL04325 MARCM neuroblast clones is partially suppressed in clones that are doubly mutant for Hr51LL04325 and Tsc129.

    Tsc129 gig192 double mutants carrying both Tsc1S533A.Tub and gig4A.αTub are viable and normal in size, although they show a slight reduction in lipid levels compared to wild type.

    Tsc129 does not protect Df(1)su(s)R194/+ clones in the eye; Df(1)su(s)R194/+ ; Tsc129 clones are not recovered in the adult eye in animals with mosaic eyes containing two genotypes of cells with respect to RpL36; cells which are Df(1)su(s)R194/+ and cells in which the haplo-insufficiency of Df(1)su(s)R194/+ for RpL36 has been rescued by RpL36+t4 (in a wild-type background the Df(1)su(s)R194/+ clones are eliminated by cell competition and are not seen in the adult eye in these animals). Also, Tsc129 does not prevent apoptosis of Df(1)su(s)R194/+ cells in the wing.

    The severity of the Torey.hs.T:Zzzz\FLAG phenotype is strongly enhanced by a heterozygous Tsc129 background.

    Imaginal disc cells double mutant for Hsc70-4e3 and Tsc129 exhibit a synergistic increase in cell size as compared with their single mutant counterparts. There is an exacerbation of Tsc129-induced tissue overgrowth in the presence of the Hsc70-4e3 mutation, in some cases resulting in a marked outgrowth of tissue in the anterior portion of the retina.

    Tsc129/+, gig192/+ double mutants are slightly larger than wild-type flies.

    The pathKG06640 growth and developmentally delayed phenotypes are significantly rescued by the presence of combined heterozygous Tsc129 and gig192 mutations. About 10% of rescued females are able to lay a small number of eggs, some of which can develop into adult flies.

    The second instar larval lethality of RhebPΔ1 homozygotes is partially suppressed by RhebPΔ1/+: 61% survive to third instar and 21% pupate. These larvae often contain melanotic 'tumors'.

    The first instar larval lethality due to Tsc129 is partially suppressed by heterozygosity for Tor2L1 : 31% (n = 193) of Tor2L1/+ Tsc129/Tsc129 animals survive to the pupal stage. The increased cell size seen in somatic clones of Tsc129 in the eye is partially suppressed in a Tor2L1 heterozygous background: the resulting clone cells are 1.3X the size of those outside the clone, compared to 1.9X for Tsc129 somatic clone cells in a wild-type background. Cells in Tor2L1; Tsc129 double mutant somatic clones are approximately 0.25 times the size of their heterozygous neighbours - i.e.- have little or no size difference with Tor2L1 somatic clone cells.

    Clones that are homozygous for both gig192 and Tsc129 show an identical phenotype to homozygous clones of either gig192 or Tsc129 alone. Ptendj189, Tsc129 double mutant somatic clones show an additive cell size increase phenotype. Tsc129 suppresses the lethality of homozygous InR35 or InR353/InR05545, allowing 6.6% and 39% animals to survive to adults respectively.

    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 (4)
    References (15)