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General Information
Symbol
Dmel\EMC6N10
Species
D. melanogaster
Name
FlyBase ID
FBal0357018
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C25024911T

Reported nucleotide change:

CAG>TAG

Amino acid change:

Q8term | EMC6-PA

Reported amino acid change:

Q8term

Comment:

Position of mutation on genomic sequence inferred by FlyBase curator from the reported nucleic acid and amino acid changes.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: Q8term.

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
Phenotype Manifest In
Detailed Description
Statement
Reference

In EMC6N10 whole-eye clones retinal cells degenerate rapidly: in 1-day old adults, retinal morphology is normal but rhabdomeres are smaller; by days 5 and 35 there is severe disruption of rhabdomeres and the accumulation of abnormal vesicles.

Electroretinograms do not show the expected prolonged depolarization afterpotential to blue light stimuli normally observed in controls.

External Data
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 (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
EMC6N10
Name Synonyms
Secondary FlyBase IDs
    References (1)