FlyBase Allele Report: Dmel\ERR[1]

General Information

Symbol

Dmel\ERR¹

Species

D. melanogaster

Name

FlyBase ID

FBal0256727

Feature type

allele

Associated gene

Dmel\ERR

Associated Insertion(s)

Carried in Construct

Also Known As

dERR¹

Key Links

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

I-SceI

(Tennessen et al., 2011)

FLPase

(Tennessen et al., 2011)

I-CreI

(Tennessen et al., 2011)

ends-in gene targeting

(Tennessen et al., 2011)

Progenitor genotype

Cytology

Description

The following mutations have been introduced into ERR : an 82 bp deletion which removes the splice acceptor site in the second exon of both isoforms, an insertion of an AscI restriction enzyme site after Thr108 which generates a frameshift mutation with a premature stop codon, and a 7bp deletion surrounding Cys414 (replacing it with ggcgcggg).

(Tennessen et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 cancer

CEA

(Tennessen et al., 2011)

CEA with ERR²

(Tennessen 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

lethal - all die before end of second instar larval stage (with ERR²)

(Tennessen et al., 2011)

some die during second instar larval stage (with ERR²)

(Tennessen et al., 2011)

Phenotype Manifest In

Detailed Description

Statement

Reference

ERR¹/ERR² mutants progress normally through embryogenesis and first instar development, but die abruptly during the later half of the second larval instar with no obvious morphological defects. Mutants are severely metabolically compromised, with a 2-fold decrease in ATP levels relative to control larvae. Normal glycogen concentrations and elevated circulating trehalose concentrations are observed in these animals. TAG levels are decreased in these mutants. An 85-90% decrease in lactate is observed in these mutants. Variations in the levels of other metabolites is observed compared to control animals.

ERR¹/Df(3L)Exel6112 mutants display metabolic defects.

(Tennessen et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Pgi^Scer\UAS.cTa and Pfk^Scer\UAS.cTa under the control of Scer\GAL4^da.G32 rescues the elevated trehalose levels of ERR¹/ERR² mutant larvae. 8% of rescued larvae complete larval development an pupariate, compared to 1% of ERR¹/ERR² control animals.