FlyBase Allele Report: Dmel\Eip63E[GN50]

General Information

Symbol

Dmel\Eip63E^GN50

Species

D. melanogaster

Name

FlyBase ID

FBal0117751

Feature type

allele

Associated gene

Dmel\Eip63E

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Caused by aberration

Df(3L)GN50

Cytology

Description

The Df(3L)GN50 breakpoint leads to the elimination of virtually all Eip63E coding sequences leaving all three Eip63E transcription initiation sites and their surrounding sequences intact. The coding sequences not eliminated consist of only 19 N-terminal codons in the α1 and β3 exons.

(Stowers et al., 2000)

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 ( 0 )

Disease

Evidence

References

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 developmental rate (with Eip63E⁸¹)

(Liu and Finley, 2010)

decreased body size (with Eip63E^E1)

(Stowers et al., 2000)

decreased body size | pupal stage (with Eip63E⁸¹)

(Liu and Finley, 2010)

lethal (with Eip63E⁸¹)

(Stowers et al., 2000)

lethal | maternal effect (with Eip63E^E1)

(Stowers et al., 2000)

lethal - all die before end of P-stage (with Eip63E⁸¹)

(Liu and Finley, 2010)

majority die during larval stage (with Eip63E⁸¹)

(Stowers et al., 2000)

some die during P-stage (with Eip63E⁸¹)

(Liu and Finley, 2010)

some die during pupal stage (with Eip63E⁸¹)

(Stowers et al., 2000)

viable (with Df(3L)1-11)

(Stowers et al., 2000)

Phenotype Manifest In

head | pupal stage (with Eip63E⁸¹)

(Liu and Finley, 2010)

leg | pupal stage (with Eip63E⁸¹)

(Liu and Finley, 2010)

pupa (with Eip63E⁸¹)

(Liu and Finley, 2010)

Detailed Description

Statement

Reference

Eip63E⁸¹/Eip63E^GN50 mutants display a major lethal phase during metamorphosis. Eip63E⁸¹/Eip63E^GN50 mutants show metamorphosis defects including the failure of proper gas bubble translocation, failed head eversion, and the failure of proper leg elongation. In addition, pupae of Eip63E⁸¹/Eip63E^GN50 mutants are small in weight and length. Eip63E⁸¹/Eip63E^GN50 mutants exhibit delayed puparium formation.

(Liu and Finley, 2010)

The ecdysone induced 63E late puff is still activated in Eip63E^GN50 polytene chromosomes. The Eip63E^E1/Eip63E^GN50 and Eip63E^GN50/Eip63E⁸¹ combinations show a heterogeneous lethal phase, with the majority of mutant animals dying during larval development and a small percentage living to pupation with an occasional adult escaper. The few Eip63E^E1/Eip63E^GN50 animals that survive past larval stages, exhibit a small pupa phenotype. They range in size from about 1/3 to 2/3 of wild-type size and also take 2-3 days longer than their heterozygous siblings to reach pupariation.