FlyBase Allele Report: Dmel\Rheb[7A1]

General Information

Symbol

Dmel\Rheb^7A1

Species

D. melanogaster

Name

FlyBase ID

FBal0159903

Feature type

allele

Associated gene

Dmel\Rheb

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

(Stocker et al., 2003)

Progenitor genotype

Cytology

Description

Amino acid replacement: V71K.

(Stocker et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

MNV

3R:5,569,664..5,569,665 [+]

Nucleotide change:

GTG5569664AAG

Amino acid change:

V71K | Rheb-PA; V71K | Rheb-PB

Reported amino acid change:

V71K

Comment:

The reported Val to Lys amino acid change (GTG to AAG) requires nucleotide changes at two positions of the codon. The site of the nucleotide substitution in the mutant was inferred by FlyBase based on the reported amino acid change.

(Stocker et al., 2003)

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 type 2 diabetes mellitus

CEA

(Murillo-Maldonado et al., 2011)

CEA with Rheb^2D1

(Murillo-Maldonado et al., 2011)

CEA with Rheb^44.1

(Murillo-Maldonado et al., 2011)

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 body size | adult stage (with Rheb^2D1)

(Murillo-Maldonado et al., 2011)

decreased body size | adult stage (with Rheb^44.1)

(Murillo-Maldonado et al., 2011, Stocker et al., 2003)

decreased body size | adult stage | recessive

(Murillo-Maldonado et al., 2011)

decreased body size | larval stage (with Rheb^26.2)

(Stocker et al., 2003)

decreased body size | pupal stage (with Rheb^26.2)

(Stocker et al., 2003)

decreased size | spermatogenesis (with Rheb^44.1)

(Azuma et al., 2021)

female sterile (with Rheb^44.1)

(Stocker et al., 2003)

lethal | pupal stage (with Rheb^26.2)

(Stocker et al., 2003)

partially lethal - majority die | larval stage (with Rheb^26.2)

(Stocker et al., 2003)

viable

(Murillo-Maldonado et al., 2011)

viable (with Rheb^2D1)

(Murillo-Maldonado et al., 2011)

viable (with Rheb^44.1)

(Murillo-Maldonado et al., 2011, Stocker et al., 2003, Stocker et al., 2003)

visible | adult stage | recessive

(Murillo-Maldonado et al., 2011)

Phenotype Manifest In

ommatidium (with Rheb^44.1)

(Stocker et al., 2003)

ovary (with Rheb^44.1)

(Stocker et al., 2003)

spermatocyte (with Rheb^44.1)

(Azuma et al., 2021)

wing

(Murillo-Maldonado et al., 2011)

wing (with Rheb^44.1)

(Stocker et al., 2003)

Detailed Description

Statement

Reference

Homozygous Rheb^7A1 mutant adult flies have a reduced body weight compared to heterozygous controls. Wing area is also reduced compared to controls.

Lipid content is not increased in homozygous Rheb^7A1 mutant flies compared to controls. Carbohydrate content is slightly increased.

Homozygous Rheb^7A1 mutant flies exhibit normal electroretinogram (ERG) readings.

Rheb^7A1/Rheb^2D1 mutant adult flies have a reduced body weight compared to heterozygous controls.

Lipid and carbohydrate content are not increased in Rheb^7A1/Rheb^2D1 mutant flies compared to controls.

Rheb^44.1/Rheb^7A1 mutant adult flies have a reduced body weight compared to heterozygous controls.

Lipid content is not increased in Rheb^44.1/Rheb^7A1 mutant flies compared to controls. Carbohydrate content is slightly decreased.

Cholinesterase activity is significantly reduced in Rheb^44.1/Rheb^7A1 mutant flies compared to controls.

(Murillo-Maldonado et al., 2011)

Rheb^7A1/Rheb^44.1 females have only rudimentary ovaries and are sterile. Rheb^26.2/Rheb^7A1 larvae and pupae are much smaller than wild-type. The smallest die as larvae, while the rest arrest development and then die during the pupal stages.

(Stocker et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Rheb^2D1/Rheb^7A1 is a suppressor of lethal | larval stage phenotype of Tsc1^2X1/Tsc1^1A2

(Stocker et al., 2003)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Rheb^2D1/Rheb^7A1 suppresses the pupal lethality due to Tsc1^2X1/Tsc1^1A2. The resulting animals are smaller than doubly heterozygous controls (Tsc1^2X1 Rheb^2D1/+) at both pupal and adult stages.

(Stocker et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Rheb^7A1

(Azuma et al., 2021, Mukherjee et al., 2016)

dRheb^7A1

(Murillo-Maldonado et al., 2011)

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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