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General Information
Symbol
Dmel\Tsc1Q600X
Species
D. melanogaster
Name
FlyBase ID
FBal0123966
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

C24132584T

Reported nucleotide change: Amino acid change:

Q600term | Tsc1-PA

Reported amino acid change:

Q600term

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

Amino acid replacement: Q600term.

Nucleotide substitution: C?T.

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

Tsc1Q600X mutant eye clones are larger than heterozygous twin spots.

Homozygous clones in the wing disc are significantly larger than wild-type clones, covering on average a 2.9-fold larger area than their control sister clones in a coupled MARCM assay. The mutant clones show a 2-fold increase in cell number compared to the wild-type sister clone, but only a 26% increase in cell size.

Eyes that are entirely comprised of Tsc1Q600X mutant clones (generated using WGMR.PG) are increased in size. The head capsule is also increased in size.

Mosaic flies in which the eye and head is composed primarily of homozygous cells have a much larger eye and head than normal.

Induction of mutant clones in the eye (induced by P{ey-FLP.N}1) results in mosaic eyes containing more than 90% mutant ommatidia, which are also increased in size. Mosaic flies in which all cells in the eye are mutant have enlarged eyes and a normal size body. The number of ommatidia in these eyes is close to wild type. In mosaic ommatidia, mutant cells are enlarged in size, while neighbouring wild-type cells are normal, indicating that the phenotype is cell autonomous. Photoreceptor differentiation appears largely normal, although rhabdomeres are often elongated and fused ommatidia are occasionally formed at the clone border. Mutant clones also contain enlarged interommatidial bristles. Infrequently, 1 to 3 extra or missing bristles are also found. Anterior margin bristles in homozygous clones in the wing are enlarged. A small percentage of mosaic adults have melanotic tumours. Homozygotes and Tsc1Q600X/Df(3R)crb-F89-4 animals die during the second larval instar. Large clones in the eye and wing disc result in discs that are two to three times larger than wild-type controls. Mutant cells anterior and posterior to the morphogenetic furrow of third instar eye discs are increased in size and mutant cells in pupal eye discs show a more dramatic 2- to 3-fold increase in size. The pattern of photoreceptor cell differentiation appears normal in clones in the eye disc, despite an increase in nuclear size. Mosaic mutant eye discs show an approximately 5-fold increase in the number of S phase cells posterior to the second mitotic wave compared to wild type. There is also an increase in the number of cells in mitosis. More than 40% of mutant ommatidia in pupal eye discs (65 hours after white prepupa formation) have 1 to 3 extra accessory cells. An increase in the number of photoreceptor cells is not seen. Mutant wing disc cells have normal DNA content despite an increase in cell size throughout the cell cycle. The number of cells at the G1/G0 phase is significantly decreased compared to controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
NOT Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
NOT Suppressor of
Statement
Reference

Tsc1Q600X is a non-suppressor of visible | recessive | somatic clone phenotype of S6kl-1

Phenotype Manifest In
NOT Enhanced by
Suppressed by
NOT suppressed by
NOT Suppressor of
Statement
Reference

Tsc1Q600X is a non-suppressor of ommatidium | somatic clone phenotype of S6kl-1

Additional Comments
Genetic Interactions
Statement
Reference

Overexpression of unkScer\UAS.cARa under the control of Scer\GAL4GMR.PU in Tsc1Q600X mutant eye clones does not affect the precocious differentiation of R7 photoreceptor cells and cone cells.

Co-expression of hdcScer\UAS.cSa and unkScer\UAS.cARa under the control of Scer\GAL4GMR.PU in Tsc1Q600X mutant eye clones suppresses the precocious differentiation of R7 and cone cells. Neither the delay in differentiation, nor the rough eye phenotype are due to increased apoptosis.

Expression of RpL8dsRNA.Scer\UAS under the control of Scer\GAL4GMR.PF partially suppresses the increase in eye and head capsule size seen in Tsc1Q600X mutant clones.

The head and eye overgrowth phenotype seen in animals in which the eye and head are homozygous for Tsc1Q600X is suppressed by expression of TctpdsRNA.Scer\UAS under the control of Scer\GAL4ey.PH.

Animals in which the eye is doubly mutant for Tsc1Q600X and Tctph59 have a small or no-eye phenotype indistinguishable from the Tctph59 single mutant phenotype.

Expression of Ras85DV12.Scer\UAS (under the control of Scer\GAL4Act5C.PI) using the FLP/FRT system in brain somatic clones mutant for Tsc1Q600X results in extremely large tumours, although these never exhibit metastatic behaviour.

Clones in the eye doubly mutant for InR05545 and Tsc1Q600X show the Tsc1Q600X single mutant phenotype of enlarged ommatidia. Clones in the eye doubly mutant for Akt11 and Tsc1Q600X show the Tsc1Q600X single mutant phenotype of enlarged ommatidia. Mosaic eyes consisting primarily of double mutant S6kl-1 Tsc1Q600X ommatidia show the S6kl-1 single mutant phenotype. Expression of PtenScer\UAS.cHa in the eye under the control of Scer\GAL4GMR.PF does not suppress the phenotype of Tsc1Q600X mutant clones.

Xenogenetic Interactions
Statement
Reference

Expression of Hsap\RPL8DN.Scer\UAS under the control of Scer\GAL4GMR.PF partially suppresses the increase in eye and head capsule size seen in Tsc1Q600X mutant clones.

Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
References (10)