FlyBase Allele Report: Dmel\ec[1]

General Information

Symbol

Dmel\ec¹

Species

D. melanogaster

Name

FlyBase ID

FBal0003499

Feature type

allele

Associated gene

Dmel\ec

Associated Insertion(s)

copia{}ec¹

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Montrasio et al., 2007)

Mutagen

spontaneous

ethyl methanesulfonate

(Wolff and Ready, 1991)

Progenitor genotype

Associated Insertion(s)

copia{}ec¹

Cytology

Description

Insertion of a copia element 3' to the transcript, in addition to the mutation in the coding region.

(Copeland et al., 2007)

Amino acid replacement: R295term.

(Copeland et al., 2007)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:3,852,227..3,852,227 [+]

Nucleotide change:

C3852227T

Amino acid change:

R261term | ec-PA; R295term | ec-PB; R314term | ec-PC

Reported amino acid change:

R295term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Copeland et al., 2007)

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

decreased cell death | pupal stage P7

(Montrasio et al., 2007)

visible | recessive

(Copeland et al., 2007)

Phenotype Manifest In

Detailed Description

Statement

Reference

Homozygous adults have rough eyes and extra interommatidial cells are present in the pupal retina.

(Copeland et al., 2007)

ec¹ adult eyes display weak ommatidial orientation defects. Rarely, disrupted ommatidial orientation is observed in third instar and pupal (24 hours after pupal formation) eye discs. Programmed cell death is occasionally disrupted to result in additional lattice cells in the pupal eye disc from 42 hours after pupal formation.

ec¹/Df(1)GA102 adult eyes display intermediate ommatidial orientation defects, reduced in frequency compared to ec^spok homozygotes, but increased compared to ec¹ homozygotes.

(Montrasio et al., 2007)

Post death stage homozygous ec¹ pupal retinae have an increased average density of secondary/tertiary pigment cells compared to wild-type. Unlike wild-type, the local density of these cells is variable.

(Mirkovic et al., 2002)

Occasional extra primary pigment cells and extra cone cells within the eye. Low levels of cell death are seen in the larval eye disc leading to a disorganised retinal lattice.

(Wolff and Ready, 1991)

Reduces number of mesopleural hairs in h homozygotes.

(Sturtevant, 1970)

Eyes large and bulging. Eye surface rough; facets large. Wings rather short and broad. Body thickset. Tends to remove dorsocentrals (posterior more than anterior) and posterior notopleurals; may also add dorsocentrals anterior to anterior dorsocentrals whether or not posterior bristles removed (Sturtevant). ec¹ is visible in +/ec¹/ec¹ triploids (Gersh). RK1.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT suppressed by

Statement

Reference

ec¹ has phenotype, non-suppressible by su(Hw)²

(Lindsley and Grell, 1968)

Additional Comments