FlyBase Allele Report: Dmel\abs[E2]

General Information

Symbol

Dmel\abs^E2

Species

D. melanogaster

Name

FlyBase ID

FBal0104691

Feature type

allele

Associated gene

Dmel\abs

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: P254L.

(Schmucker et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:4,233,889..4,233,889 [+]

Nucleotide change:

C4233889T

Amino acid change:

P254L | abs-PA

Reported amino acid change:

P254L

Comment:

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

(Schmucker et al., 2000)

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

lethal | larval stage | heat sensitive

(Schmucker et al., 2000)

lethal | pharate adult stage

(Schmucker et al., 2000)

lethal - all die before end of larval stage (with abs^45LR7)

(Schmucker et al., 2000)

some die during third instar larval stage (with abs^45LR7)

(Schmucker et al., 2000)

Phenotype Manifest In

melanotic mass | ectopic (with abs^45LR7)

(Schmucker et al., 2000)

ommatidium (with abs^45LR7)

(Schmucker et al., 2000)

photoreceptor neuron (with abs^45LR7)

(Schmucker et al., 2000)

photoreceptor neuron | ectopic (with abs^45LR7)

(Schmucker et al., 2000)

retina

(Schmucker et al., 2000)

retina & axon (with abs^45LR7)

(Schmucker et al., 2000)

Detailed Description

Statement

Reference

At 28^oC homozygous mutants die before third instar larval stage, at 18^oC they continue development through larval and pupal stage and die only as pharate adults. The overall organisation of the retinal projections is disrupted in abs^E2/abs^45LR7 animals. The fan of retinal projections into the optic lobe is irregular in shape, axons terminate prematurely and often cluster aberrantly. No apparent defects in photoreceptor differentiation is seen, and the number of ommatidia appears normal. However some irregularities in the photoreceptor cell layer, including misrotation of ommatidia, additional photoreceptors, and sometimes fewer photoreceptors are seen. abs^E2/abs^45LR7 show melanotic tumours at various positions in their bodies.

(Schmucker et al., 2000)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Phenotypic analysis provides an allelic series: abs^E2 << abs⁰⁴⁵⁰⁵ = abs⁰⁰⁶²⁰ < abs^II-F1 = abs^45LR7.

(Schmucker et al., 2000)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

abs^E2

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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