FlyBase Allele Report: Dmel\Tsc1[R453X]

General Information

Symbol

Dmel\Tsc1^R453X

Species

D. melanogaster

Name

FlyBase ID

FBal0123964

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

(Tapon et al., 2001)

Progenitor genotype

Cytology

Description

Revision of amino acid replacement reported in FBrf0135684.

(Hariharan, 2001.7.24)

Amino acid replacement: R460term.

(Hariharan, 2001.7.24)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:24,132,164..24,132,164 [+]

Nucleotide change:

C24132164T

Reported nucleotide change:

C?T|FBrf0135684

Amino acid change:

R460term | Tsc1-PA

Reported amino acid change:

R460term

Comment:

Site of nucleic acid difference inferred by FlyBase based on reported amino acid change

(Tapon 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 autism spectrum disorder

CEA

(Dong et al., 2016)

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

Tsc1^R453X/Tsc1^R453X mutants do not exhibit defective learning in an aversive conditioning assay, but do exhibit defects in a reversal-learning paradigm, with a third-odor preference assay showing an inability to forget the first aversive odor association after training with a second aversive odor, as compared to wild type flies.

(Dong et al., 2016)

Tsc1^R453X 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 Tsc1^R453X 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 Tsc1^R453X 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 Tsc1^R453X mutant ISC clones do not undergo apoptosis.

Tsc1^R453X homozygous intestinal stem cell (ISC) clones from flies fed on a restricted diet are lost at a similar rate as in wild-type clones. Tsc1^R453X homozygous intestinal stem cell (ISC) clones grow significantly larger regardless of nutritional status.

(Quan et al., 2013)

Tsc1^R453X mutant eye disc clones undergo apoptosis just anterior to the morphogenetic furrow.

(Hsieh et al., 2010)

Tsc1^R453X/Tsc1^R453X mutant clones on the adult thorax exhibit a significant increase in the frequency of double bristles, missing bristles, patches of bald cuticle, delay or premature arrest of the cell cycle, and apoptosis, as compared to controls.

(Karbowniczek et al., 2010)

Homozygous clones in the eye disc result in robust overgrowth of the eye.

(Hietakangas and Cohen, 2007)

Tsc1^R453X mutants show no defects in opsin regulation.

(Mikeladze-Dvali et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Tsc1^R453X has increased cell death | somatic clone phenotype, enhanceable by Rbf^120a

(Hsieh et al., 2010)

Suppressed by

Statement

Reference

Rbf^120a, Tsc1^R453X has increased cell death | somatic clone phenotype, suppressible by Rheb^2D1

(Hsieh et al., 2010)

NOT suppressed by

Statement

Reference

Tsc1^R453X has hyperplasia | somatic clone phenotype, non-suppressible by rictor^Δ2

(Hietakangas and Cohen, 2007)

Enhancer of

Statement

Reference

Tsc1^R453X is an enhancer of increased cell death | somatic clone phenotype of Rbf^120a

(Hsieh et al., 2010)

Tsc1^R453X is an enhancer of increased occurrence of cell division | larval stage | somatic clone phenotype of Rbf^120a

(Hsieh et al., 2010)

Phenotype Manifest In

Enhanced by

Statement

Reference

Tsc1^R453X has eye disc | somatic clone phenotype, enhanceable by Rbf^120a

(Hsieh et al., 2010)

Tsc1^R453X has eye disc morphogenetic furrow | somatic clone phenotype, enhanceable by Rbf^120a

(Hsieh et al., 2010)

Suppressed by

Statement

Reference

Rbf^120a, Tsc1^R453X has eye disc | somatic clone phenotype, suppressible by Rheb^2D1

(Hsieh et al., 2010)

Rbf^120a, Tsc1^R453X has eye disc morphogenetic furrow | somatic clone phenotype, suppressible by Rheb^2D1

(Hsieh et al., 2010)

NOT suppressed by

Statement

Reference

Tsc1^R453X has eye | somatic clone phenotype, non-suppressible by rictor^Δ2

(Hietakangas and Cohen, 2007)

Enhancer of

Statement

Reference

Tsc1^R453X is an enhancer of eye disc anterior to the morphogenetic furrow | somatic clone phenotype of Rbf^120a

(Hsieh et al., 2010)

Tsc1^R453X is an enhancer of eye disc morphogenetic furrow | somatic clone phenotype of Rbf^120a

(Hsieh et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

Rbf^120a Tsc1^R453X double mutant eye disc clones exhibit ectopic S-phase cells at the morphogenetic furrow. Approximately 12.4 ectopic S-phase cells/pixels are present in Rbf^120a Tsc1^R453X double mutant eye disc clones, showing a 3-fold increase compared to Rbf^120a single mutant clones.

The ectopic cell death observed in Rbf^120a Tsc1^R453X double mutant cells is completely suppressed in Rheb^2D1 mutant clones.

Rbf^120a Tsc1^R453X double mutant eye disc clones exhibit a large increase in apoptosis at the morphogenetic furrow and the anterior region of the eye disc.

(Hsieh et al., 2010)

rictor^Δ2 does not suppress the overgrowth of the eye caused by homozygous Tsc1^R453X clones.

(Hietakangas and Cohen, 2007)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

"Amino acid replacement: R460@." was stated as revision.

(Hariharan, 2001.7.24)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

TSC1^R453X

(Hietakangas and Cohen, 2007, Mikeladze-Dvali et al., 2005)

Tsc1^R453X

(Quan et al., 2013, Karbowniczek et al., 2010)

Tsc1^R460X

(Dong et al., 2016)

tsc1^R453X

(Hsieh et al., 2010)

tsc1^R453x

(Zitserman et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

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