FlyBase Allele Report: Dmel\Esyt2[KO]

General Information

Symbol

Dmel\Esyt2^KO

Species

D. melanogaster

Name

FlyBase ID

FBal0362754

Feature type

allele

Associated gene

Dmel\Esyt2

Associated Insertion(s)

Carried in Construct

Also Known As

dEsyt^KO

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Nath et al., 2020)

Mutagen

CRISPR/Cas9

(Nath et al., 2020)

Progenitor genotype

Cytology

Description

488 amino acids within the Esyt2 coding region are deleted.

(Nath et al., 2020)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:24,551,641..24,554,945 [+]

Comment:

488 amino acids within the Esyt2 coding region are deleted.

(Nath et al., 2020)

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

(Nath et al., 2020)

decreased body size | adult stage | recessive

(Nath et al., 2020)

decreased body weight | adult stage | recessive

(Nath et al., 2020)

partially lethal - majority die

(Nath et al., 2020)

Phenotype Manifest In

endoplasmic reticulum-plasma membrane contact site

(Nath et al., 2020)

eye photoreceptor cell

(Nath et al., 2020)

rhabdomere of eye photoreceptor cell | decreased number

(Nath et al., 2020)

Detailed Description

Statement

Reference

Some Esyt2^KO homozygotes reach adulthood when grown on nutrition-enriched food and they exhibit progressive retinal degeneration (with substantial loss of rhabdomere integrity) under constant light condition.

Esyt2^KO homozygotes reared in dark exhibit a progressive reduction in the endoplasmic reticulum-plasma membrane contact site density in eye photoreceptors.

(Nath et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Esyt2^KO/Esyt2^KO is an enhancer of abnormal neurophysiology | adult stage phenotype of rdgB⁹

(Nath et al., 2020)

Phenotype Manifest In