FlyBase Allele Report: Dmel\Tsc1[Q600X]

General Information

Symbol

Dmel\Tsc1^Q600X

Species

D. melanogaster

Name

FlyBase ID

FBal0123966

Feature type

allele

Associated gene

Dmel\Tsc1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Potter et al., 2001)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q600term.

(Potter et al., 2001)

Nucleotide substitution: C?T.

(Potter et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:24,132,584..24,132,584 [+]

Nucleotide change:

C24132584T

Reported nucleotide change:

C?T|FBrf0135685

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

(Potter et al., 2001)

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 ( 1 )

Disease

Evidence

References

model of tuberous sclerosis

CEA

(Potter et al., 2001)

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

abnormal size | adult stage | somatic clone

(Xu et al., 2008, Potter et al., 2001)

increased cell number | pupal stage | somatic clone

(Potter et al., 2001)

increased cell number | somatic clone

(Potter et al., 2010)

increased cell size | recessive | somatic clone

(Potter et al., 2001)

increased cell size | somatic clone

(Avet-Rochex et al., 2014)

increased occurrence of cell division | larval stage | somatic clone

(Potter et al., 2001)

lethal - all die before end of larval stage (with Df(3R)crb-F89-4)

(Potter et al., 2001)

lethal - all die before end of larval stage | recessive

(Potter et al., 2001)

melanotic mass phenotype | adult stage | somatic clone

(Potter et al., 2001)

some die during larval stage (with Df(3R)crb-F89-4)

(Potter et al., 2001)

some die during larval stage | recessive

(Potter et al., 2001)

visible | adult stage | somatic clone

(Xu et al., 2008)

visible | recessive | somatic clone

(Potter et al., 2001)

visible | somatic clone

(Hsu et al., 2007)

Phenotype Manifest In

adult head | somatic clone

(Hsu et al., 2007)

adult head capsule | somatic clone

(Xu et al., 2008)

cone cell | somatic clone

(Avet-Rochex et al., 2014)

eye | somatic clone

(Xu et al., 2008, Hsu et al., 2007, Potter et al., 2001)

eye disc & mitotic cell cycle | somatic clone

(Potter et al., 2001)

eye disc & S phase | somatic clone

(Potter et al., 2001)

eye disc | somatic clone

(Potter et al., 2001)

interommatidial bristle | somatic clone

(Potter et al., 2001)

interommatidial bristle | somatic clone | increased number

(Potter et al., 2001)

melanotic mass | somatic clone

(Potter et al., 2001)

ommatidium | cell autonomous | somatic clone

(Potter et al., 2001)

photoreceptor cell R7 | somatic clone

(Avet-Rochex et al., 2014)

rhabdomere | somatic clone

(Potter et al., 2001)

wing disc | somatic clone

(Potter et al., 2010, Potter et al., 2001)

wing margin bristle | somatic clone

(Potter et al., 2001)

Detailed Description

Statement

Reference

Tsc1^Q600X mutant eye clones are larger than heterozygous twin spots.

(Avet-Rochex et al., 2014)

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.

(Potter et al., 2010)

Eyes that are entirely comprised of Tsc1^Q600X mutant clones (generated using W^GMR.PG) are increased in size. The head capsule is also increased in size.

(Xu et al., 2008)

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

(Hsu et al., 2007)

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 Tsc1^Q600X/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.

(Potter et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Tsc1^Q600X has abnormal size | adult stage | somatic clone phenotype, non-enhanceable by Akt¹

(Potter et al., 2001)

Tsc1^Q600X has abnormal size | adult stage | somatic clone phenotype, non-enhanceable by InR⁰⁵⁵⁴⁵

(Potter et al., 2001)

Suppressed by

Statement

Reference

Tsc1^Q600X has visible | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^GMR.PF/RpL8^RNAi.UAS

(Xu et al., 2008)

Tsc1^Q600X has abnormal size | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^GMR.PF/RpL8^RNAi.UAS

(Xu et al., 2008)

Tsc1^Q600X has visible | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^GMR.PF/Hsap\RPL8^DN.UAS

(Xu et al., 2008)

Tsc1^Q600X has abnormal size | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^GMR.PF/Hsap\RPL8^DN.UAS

(Xu et al., 2008)

Tsc1^Q600X has visible | somatic clone phenotype, suppressible by Tctp^RNAi.UAS/Scer\GAL4^ey.PH

(Hsu et al., 2007)

NOT suppressed by

Statement

Reference

Tsc1^Q600X has abnormal size | somatic clone | adult stage phenotype, non-suppressible by Pten^UAS.cHa/Scer\GAL4^GMR.PF

(Potter et al., 2001)

Tsc1^Q600X has visible | somatic clone phenotype, non-suppressible by Akt¹

(Potter et al., 2001)

Tsc1^Q600X has visible | somatic clone phenotype, non-suppressible by Pten^UAS.cHa/Scer\GAL4^GMR.PF

(Potter et al., 2001)

Tsc1^Q600X has visible | somatic clone phenotype, non-suppressible by InR⁰⁵⁵⁴⁵

(Potter et al., 2001)

NOT Suppressor of

Statement

Reference

Tsc1^Q600X is a non-suppressor of visible | recessive | somatic clone phenotype of S6k^l-1

(Potter et al., 2001)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Tsc1^Q600X has photoreceptor cell R7 | somatic clone phenotype, non-enhanceable by unk^UAS.cARa/Scer\GAL4^GMR.PU

(Avet-Rochex et al., 2014)

Tsc1^Q600X has cone cell | somatic clone phenotype, non-enhanceable by unk^UAS.cARa/Scer\GAL4^GMR.PU

(Avet-Rochex et al., 2014)

Suppressed by

Statement

Reference

Tsc1^Q600X has photoreceptor cell R7 | somatic clone phenotype, suppressible by unk^UAS.cARa/heca^UAS.cSa/Scer\GAL4^GMR.PU

(Avet-Rochex et al., 2014)

Tsc1^Q600X has cone cell | somatic clone phenotype, suppressible by unk^UAS.cARa/heca^UAS.cSa/Scer\GAL4^GMR.PU

(Avet-Rochex et al., 2014)

Tsc1^Q600X has eye | somatic clone phenotype, suppressible by Scer\GAL4^GMR.PF/RpL8^RNAi.UAS

(Xu et al., 2008)

Tsc1^Q600X has adult head capsule | somatic clone phenotype, suppressible by Scer\GAL4^GMR.PF/RpL8^RNAi.UAS

(Xu et al., 2008)

Tsc1^Q600X has eye | somatic clone phenotype, suppressible by Tctp^RNAi.UAS/Scer\GAL4^ey.PH

(Hsu et al., 2007)

Tsc1^Q600X has adult head | somatic clone phenotype, suppressible by Tctp^RNAi.UAS/Scer\GAL4^ey.PH

(Hsu et al., 2007)

NOT suppressed by

Statement

Reference

Tsc1^Q600X has photoreceptor cell R7 | somatic clone phenotype, non-suppressible by unk^UAS.cARa/Scer\GAL4^GMR.PU

(Avet-Rochex et al., 2014)

Tsc1^Q600X has cone cell | somatic clone phenotype, non-suppressible by unk^UAS.cARa/Scer\GAL4^GMR.PU

(Avet-Rochex et al., 2014)

Tsc1^Q600X has ommatidium | somatic clone phenotype, non-suppressible by Akt¹

(Potter et al., 2001)

Tsc1^Q600X has ommatidium | somatic clone phenotype, non-suppressible by InR⁰⁵⁵⁴⁵

(Potter et al., 2001)

Tsc1^Q600X has ommatidium | somatic clone phenotype, non-suppressible by Pten^UAS.cHa/Scer\GAL4^GMR.PF

(Potter et al., 2001)

NOT Suppressor of

Statement

Reference

Tsc1^Q600X is a non-suppressor of ommatidium | somatic clone phenotype of S6k^l-1

(Potter et al., 2001)

Additional Comments

Genetic Interactions

Statement

Reference

Overexpression of unk^{Scer\UAS.cARa} under the control of Scer\GAL4^GMR.PU in Tsc1^Q600X mutant eye clones does not affect the precocious differentiation of R7 photoreceptor cells and cone cells.

Co-expression of hdc^Scer\UAS.cSa and unk^{Scer\UAS.cARa} under the control of Scer\GAL4^GMR.PU in Tsc1^Q600X 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.

(Avet-Rochex et al., 2014)

Expression of RpL8^{dsRNA.Scer\UAS} under the control of Scer\GAL4^GMR.PF partially suppresses the increase in eye and head capsule size seen in Tsc1^Q600X mutant clones.

(Xu et al., 2008)

The head and eye overgrowth phenotype seen in animals in which the eye and head are homozygous for Tsc1^Q600X is suppressed by expression of Tctp^{dsRNA.Scer\UAS} under the control of Scer\GAL4^ey.PH.

Animals in which the eye is doubly mutant for Tsc1^Q600X and Tctp^h59 have a small or no-eye phenotype indistinguishable from the Tctp^h59 single mutant phenotype.

(Hsu et al., 2007)

Expression of Ras85D^V12.Scer\UAS (under the control of Scer\GAL4^Act5C.PI) using the FLP/FRT system in brain somatic clones mutant for Tsc1^Q600X results in extremely large tumours, although these never exhibit metastatic behaviour.

(Igaki et al., 2006)

Clones in the eye doubly mutant for InR⁰⁵⁵⁴⁵ and Tsc1^Q600X show the Tsc1^Q600X single mutant phenotype of enlarged ommatidia. Clones in the eye doubly mutant for Akt1¹ and Tsc1^Q600X show the Tsc1^Q600X single mutant phenotype of enlarged ommatidia. Mosaic eyes consisting primarily of double mutant S6k^l-1 Tsc1^Q600X ommatidia show the S6k^l-1 single mutant phenotype. Expression of Pten^Scer\UAS.cHa in the eye under the control of Scer\GAL4^GMR.PF does not suppress the phenotype of Tsc1^Q600X mutant clones.

(Potter et al., 2001)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\RPL8^DN.Scer\UAS under the control of Scer\GAL4^GMR.PF partially suppresses the increase in eye and head capsule size seen in Tsc1^Q600X mutant clones.

(Xu et al., 2008)

Complementation and Rescue Data

Rescued by

Tsc1^Q600X is rescued by Tsc1^UAS.cPa/Scer\GAL4^Act5C.PI

(Potter et al., 2001)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

82163

y¹ w^*; P{neoFRT}82B Tsc1^Q600X/TM6B, Tb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Tsc1^Q600X

(Dong et al., 2021, Maierbrugger et al., 2020, Avet-Rochex et al., 2014, Avet-Rochex et al., 2012, Potter et al., 2010, Potter et al., 2010, Potter et al., 2010, Xu et al., 2008, Hsu et al., 2007, Igaki et al., 2006)

t14

(Potter et al., 2001)

Name Synonyms

Secondary FlyBase IDs

References (13)

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