FlyBase Allele Report: Dmel\gig[192]

General Information

Symbol

Dmel\gig¹⁹²

Species

D. melanogaster

Name

FlyBase ID

FBal0095408

Feature type

allele

Associated gene

Dmel\gig

Associated Insertion(s)

Carried in Construct

Also Known As

Tsc2¹⁹²

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

X ray

Nature of the Allele

Allele class

Mutagen

X ray

(Ito and Rubin, 1999)

Progenitor genotype

Cytology

Description

161 bp deletion and 7bp insertion that causes a frameshift after amino acid 919 and truncation of the protein after the addition of 16 out of frame amino acids.

(Ito and Rubin, 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

3L:20,135,765..20,135,925 [+]

Comment:

A 161 bp deletion and 7bp insertion that causes a frameshift after amino acid 919 and truncation of the protein after the addition of 16 out of frame amino acids. Position of mutation on reference sequence inferred by FlyBase curator based on author statement.

(Ito and Rubin, 1999)

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 2

CEA

(Tapon 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

decreased cell death | somatic clone

(Quan et al., 2013)

decreased cell number | somatic clone

(Quan et al., 2013)

decreased cell number | somatic clone | spermatogenesis

(Yuen et al., 2021)

increased body size | somatic clone

(Reiling and Hafen, 2004)

increased cell death | somatic clone

(Hsieh et al., 2010, Li et al., 2010)

increased cell size | adult stage | cell autonomous

(Ito and Rubin, 1999)

increased cell size | recessive | somatic clone

(Tapon et al., 2001)

increased cell size | somatic clone

(Gao et al., 2002)

increased occurrence of cell division | larval stage | somatic clone

(Tapon et al., 2001)

lethal - all die before end of larval stage (with gig⁵⁶)

(Reiling and Hafen, 2004)

lethal - all die before end of larval stage | recessive

(Ito and Rubin, 1999)

lethal - all die before end of pupal stage | somatic clone

(Goberdhan et al., 2005)

some die during larval stage (with gig⁵⁶)

(Reiling and Hafen, 2004)

some die during larval stage | recessive

(Ito and Rubin, 1999)

some die during pupal stage | somatic clone

(Goberdhan et al., 2005)

visible | recessive

(Ito and Rubin, 1999)

Phenotype Manifest In

cell cycle

(Ito and Rubin, 1999)

cyst cell of testis | somatic clone

(Yuen et al., 2021)

cyst progenitor cell | somatic clone

(Yuen et al., 2021)

enteroendocrine cell | somatic clone

(Quan et al., 2013)

eye

(Ito and Rubin, 1999)

eye | somatic clone

(Li et al., 2010, Goberdhan et al., 2005, Reiling and Hafen, 2004)

eye disc & mitotic cell cycle | ectopic | somatic clone

(Tapon et al., 2001)

eye disc & S phase | ectopic | somatic clone

(Tapon et al., 2001)

eye disc | somatic clone

(Hsieh et al., 2010, Tapon et al., 2001)

intestinal stem cell | somatic clone

(Quan et al., 2013)

ommatidium

(Ito and Rubin, 1999)

wing

(Ito and Rubin, 1999)

wing disc | somatic clone

(Tapon et al., 2001)

wing margin bristle

(Ito and Rubin, 1999)

wing margin bristle | somatic clone

(Gao and Pan, 2001)

Detailed Description

Statement

Reference

gig¹⁹² somatic cyst stem clones in the testis are progressively lost from day 2 to day 7 post clone induction; some testes with no somatic cyst stem cell clones contain clonal cells distant from the hub, consistent with mutant somatic cyst stem cells that have differentiated and left the niche.

(Yuen et al., 2021)

gig¹⁹² homozygous intestinal stem cell (ISC) clones are lost over time. In wild-type clones, approximately 86-100% of ISC clones present on day 4 are maintained on day 14, while almost all gig¹⁹² homozygous clones present on day 4 are absent on day 14. The remaining ISC clones on day 14 generally contain fewer cells, indicating that the gig¹⁹² clones are under-proliferative. The mutant ISCs are also larger than in wild-type. The distribution of TUNEL, a marker for fragmented DNA, indicative of apoptosis, shows that gig¹⁹² mutant ISC clones do not undergo apoptosis.

(Quan et al., 2013)

Mitotic clones of gig¹⁹² in the eye disc exhibit an increase in apoptosis compared to surrounding wild-type clones.

(Hsieh et al., 2010)

gig¹⁹² mutants exhibit large mutant patches (i.e discoloration and a rough appearance).

(Li et al., 2010)

Less than 1% of females and no males that have eyes which mainly consist of gig¹⁹² clones survive through pupal stages to adulthood. Survivors have large, bulging eyes.

(Goberdhan et al., 2005)

Animals in which the head is homozygous for gig¹⁹² (induced using the eyFLP system) have a large eye phenotype.

(Reiling and Hafen, 2004)

In somatic clones of gig¹⁹² in the eye, cell size is increased by a factor of 1.9 compared to their heterozygous neighbours.

(Gao et al., 2002)

In homozygous mutant clones there is no increase in DNA content - the cells are diploid. Homozygous mutant clones in the wing margin leads to larger wing margin bristles.

(Gao and Pan, 2001)

Homozygous clones in the wing disc are typically larger than the wild-type twin spot. Mutant cells from the posterior portion of third instar eye discs are larger than wild-type cells as measured by flow cytometry, but have a normal DNA content. There is an increased proportion of cells in S phase with no evidence of either a G2 block or polyploidy. Mutant cells in the third instar wing disc show a significant increase in size compared to wild type as measured by flow cytometry, have a normal DNA content and are not polyploid. The mutant cells are overrepresented in the S and G2 fractions and underrepresented in the G1 fractions compared to wild-type cells. There is a small reduction in division time compared to control cells. The first and second mitotic waves occur normally in mutant clones. S phases occur normally in the asynchronously dividing cells anterior to the morphogenetic furrow as well as in cells undergoing the second mitotic wave in mutant tissue in the eye disc. However, ectopic S phases and mitoses occur posterior to the second mitotic wave in mutant clones.

(Tapon et al., 2001)

Cells in mutant clones in the eye and wing are larger than wild type siblings. Cell size change of mutant cells in the eye disc is autonomous and occurs before pattern formation in the eye disc. gig mutant cells endoreplicate their DNA without cell division and show abnormal cell cycle progression. Differentiation of cells within a mutant clone progresses normally.

(Ito and Rubin, 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

gig¹⁹² has increased cell death | somatic clone phenotype, enhanceable by Rbf^120a

(Hsieh et al., 2010)

NOT Enhanced by

Statement

Reference

gig¹⁹² has increased body size | somatic clone phenotype, non-enhanceable by scyl^EP9.85/chrb¹⁸⁰

(Reiling and Hafen, 2004)

Suppressed by

Statement

Reference

Rbf^120a, gig¹⁹² has increased cell death | somatic clone phenotype, suppressible by S6k^l-1

(Hsieh et al., 2010)

Rbf^15aΔ, gig¹⁹² has increased cell death phenotype, suppressible by hid⁰⁵⁰¹⁴

(Li et al., 2010)

Rbf^15aΔ, gig¹⁹² has increased cell death phenotype, suppressible by Dronc¹

(Li et al., 2010)

Rbf^15aΔ, gig¹⁹² has increased cell death phenotype, suppressible by E2f1ⁱ²

(Li et al., 2010)

Rbf^15aΔ, gig¹⁹² has increased cell death phenotype, suppressible by S6k^l-1

(Li et al., 2010)

gig¹⁹² has lethal | somatic clone | pupal stage phenotype, suppressible by path^KG06640

(Goberdhan et al., 2005)

gig¹⁹² has increased cell size | somatic clone phenotype, suppressible by S6k^l-1/S6k^l-1

(Gao et al., 2002)

NOT Enhancer of

Statement

Reference

gig[+]/gig¹⁹² is a non-enhancer of partially lethal - majority die phenotype of hpo^+t4.0, hpo^42-20

(Wu et al., 2003)

Suppressor of

Statement

Reference

gig[+]/gig¹⁹² is a suppressor of partially lethal - majority die phenotype of pic^PL12c/pic²

(Hu et al., 2008)

gig[+]/gig¹⁹² is a suppressor of abnormal developmental rate phenotype of pic^PL12c/pic²

(Hu et al., 2008)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor | partially of decreased fecundity | female phenotype of path^KG06640

(Goberdhan et al., 2005)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor of decreased body size phenotype of path^KG06640

(Goberdhan et al., 2005)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor of decreased cell number phenotype of path^KG06640

(Goberdhan et al., 2005)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor of decreased cell size phenotype of path^KG06640

(Goberdhan et al., 2005)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor of abnormal developmental rate phenotype of path^KG06640

(Goberdhan et al., 2005)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor | partially of female sterile phenotype of path^KG06640

(Goberdhan et al., 2005)

gig¹⁹²/gig¹⁹² is a suppressor of decreased cell size | somatic clone phenotype of S6k^l-1

(Gao et al., 2002)

NOT Suppressor of

Statement

Reference

gig[+]/gig¹⁹² is a non-suppressor of partially lethal - majority die phenotype of hpo^+t4.0, hpo^42-20

(Wu et al., 2003)

Other

Statement

Reference

Rbf^15aΔ, gig¹⁹² has increased cell death phenotype

(Li et al., 2010)

Tsc1²⁹, gig[+]/gig¹⁹² has increased body size phenotype

(Goberdhan et al., 2005)

Phenotype Manifest In

Enhanced by

Statement

Reference

gig¹⁹² has eye disc | somatic clone phenotype, enhanceable by Rbf^120a

(Hsieh et al., 2010)

NOT Enhanced by

Statement

Reference

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

(Gao and Pan, 2001)

Suppressed by

Statement

Reference

Rbf^120a, gig¹⁹² has eye disc | somatic clone phenotype, suppressible by S6k^l-1

(Hsieh et al., 2010)

Rbf^15aΔ, gig¹⁹² has eye disc posterior to the morphogenetic furrow phenotype, suppressible by Dronc¹

(Li et al., 2010)

Rbf^15aΔ, gig¹⁹² has eye | somatic clone phenotype, suppressible by E2f1ⁱ²

(Li et al., 2010)

Rbf^15aΔ, gig¹⁹² has eye | somatic clone phenotype, suppressible by S6k^l-1

(Li et al., 2010)

gig¹⁹² has eye | somatic clone phenotype, suppressible by path^KG06640

(Goberdhan et al., 2005)

NOT suppressed by

Statement

Reference

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

(Gao and Pan, 2001)

NOT Enhancer of

Statement

Reference

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

(Gao and Pan, 2001)

Suppressor of

Statement

Reference

gig¹⁰⁹/gig¹⁹² is a suppressor of fat body phenotype of Atg1^UAS.cSa, Scer\GAL4^hs.PH

(Scott et al., 2007)

Tsc1²⁹, Tsc1[+], gig[+], gig¹⁹² is a suppressor of wing phenotype of path^KG06640

(Goberdhan et al., 2005)

NOT Suppressor of

Statement

Reference

gig[+]/gig¹⁹² is a non-suppressor of macrochaeta phenotype of pic^PL12c/pic²

(Hu et al., 2008)

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

(Gao and Pan, 2001)

Other

Statement

Reference

Rbf^15aΔ, gig¹⁹² has wing disc phenotype

(Li et al., 2010)

Rbf^15aΔ, gig¹⁹² has eye | somatic clone phenotype

(Li et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

The level of ectopic cell death is increased in gig¹⁹² mutant clones generated in Rbf^120a mutant eye discs.

The ectopic cell death observed in Rbf^120a gig¹⁹² is completely absent in Rbf^120a gig¹⁹² S6k^l-1 triple mutant cells.

(Hsieh et al., 2010)

gig¹⁹²/Rbf^15aΔ mutant eye clones are smaller than gig¹⁹² mutant eye clones. Adult eyes with gig¹⁹²/Rbf^15aΔ double mutant cones are smaller and display a rough appearance, compared to wild-type eyes. This correlates with an increase in apoptosis in both anterior and posterior (to the morphogenic furrow) clones in double mutant eye discs. This synergistic induction of cell death is also seen in the wing disc.

The presence of a W⁰⁵⁰¹⁴ background significantly decreases gig¹⁹²/Rbf^15aΔ induced cell death. Some cell death is still observed, particularly in the anterior of the eye disc.

The presence of a Nc¹ background significantly decreases gig¹⁹²/Rbf^15aΔ induced cell death in the posterior (the differentiating part of the eye disc). However Nc¹ has little effect on cell death of gig¹⁹²/Rbf^15aΔ clones in the anterior, the proliferating part of the eye disc. These triple mutants exhibit an increase in mutant tissue in the eye as well as their overall size.

The presence of an E2fⁱ² background significantly decreases gig¹⁹²/Rbf^15aΔ induced cell death in the eye. In addition, much larger gig¹⁹²/Rbf^15aΔ double mutant clones are observed in adult eyes.

The presence of a S6k^l-1 background significantly decreases gig¹⁹²/Rbf^15aΔ induced cell death in the eye. In addition, much larger gig¹⁹²/Rbf^15aΔ double mutant clones are observed in adult eyes.

(Li et al., 2010)

Tsc1²⁹ gig¹⁹² double mutants carrying both Tsc1^S533A.Tub and gig^4A.αTub are viable and normal in size, although they show a slight reduction in lipid levels compared to wild type.

(Schleich and Teleman, 2009)

Heterozygosity for gig¹⁹² substantially suppresses the late eclosion phenotype and the semi-lethality of pic²/pic^PL12c animals, but the bristle defects caused by pic²/pic^PL12c are not significantly suppressed by gig¹⁹²/+.

(Hu et al., 2008)

The induction of autophagy in the fat body of normally fed animals that is caused by expression of Atg1^Scer\UAS.cSa under the control of Scer\GAL4^hs.PH is significantly reduced if the animals are also carrying gig¹⁰⁹/gig¹⁹².

(Scott et al., 2007)

gig¹⁹² does not protect Df(1)su(s)R194/+ clones in the eye; Df(1)su(s)R194/+ ; gig¹⁹² 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, gig¹⁹² does not prevent apoptosis of Df(1)su(s)R194/+ cells in the wing.

(Tyler et al., 2007)

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

The path^KG06640 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.

When clonal material in the eye is mutant for both gig¹⁹² and path^KG06640 in an otherwise heterozygous animal, the lethal effects of gig¹⁹² are suppressed, and about 10% of mutant animals, both males and females, eclose. Their eyes are smaller and bulge less than gig¹⁹² mutant eyes.

(Goberdhan et al., 2005)

The large eye phenotype seen in animals in which the head is homozygous for gig¹⁹² (induced using the eyFLP system) is not further enhanced if the heads are also homozygous for both scyl^EP9.85 and chrb¹⁸⁰.

(Reiling and Hafen, 2004)

The increase in cell size seen in somatic clones of gig¹⁹² in the eye is completely suppressed in double mutant somatic clones with S6k^l-1. The decrease in cell size seen in somatic clones of S6k^l-1 in the eye is completely suppressed in double mutant somatic clones with gig¹⁹².

(Gao et al., 2002)

Clones that are homozygous for both gig¹⁹² and Tsc1²⁹ show an identical phenotype to homozygous clones of either gig¹⁹² or Tsc1²⁹ alone.

(Gao and Pan, 2001)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Rescued by

gig¹⁹² is rescued by gig^4A.αTub

(Dong and Pan, 2004)

gig¹⁹² is rescued by gig^DE.αTub

(Dong and Pan, 2004)

gig¹⁹² is rescued by gig^αTub.PD

(Dong and Pan, 2004)

gig¹⁹² is rescued by gig^AA.αTub

(Dong and Pan, 2004)

Not rescued by

gig¹⁹² is not rescued by gig^R622W.αTub

(Dong and Pan, 2004)

gig¹⁹² is not rescued by gig^R884Q.αTub

(Dong and Pan, 2004)

gig¹⁹² is not rescued by gig^K1693A.αTub

(Dong and Pan, 2004)

gig¹⁹² is not rescued by gig^N1698K.αTub

(Dong and Pan, 2004)

gig¹⁹² is not rescued by gig^hs.PI

(Ito and Rubin, 1999)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

600340

w¹¹¹⁸; gig¹⁹², P{neoFRT}80B/TM6B, Tb¹

Notes on Origin

Discoverer

Selected as: eye morphology mutant in FRT/FLP screen.

(Ito and Rubin, 1999)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

C1¹⁹²

(Ito and Rubin, 1999)

TSC2¹⁹²

(Tyler et al., 2007, Scott et al., 2004, Scott et al., 2004)

Tsc2¹⁹²

(Juhász et al., 2008, Goberdhan et al., 2005, Dong and Pan, 2004, Reiling and Hafen, 2004, Gao et al., 2002, Tapon et al., 2001)

gig¹⁹²

(Durkin et al., 2023, Yuen et al., 2021, Quan et al., 2013, Kapuria et al., 2012, Hsieh et al., 2010, Li et al., 2010, Schleich and Teleman, 2009, Hu et al., 2008, Scott et al., 2007, Scott et al., 2007)

tsc2¹⁹²

(Kim et al., 2017, Kockel et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (24)

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