FlyBase Allele Report: Dmel\Cpes[KO]

General Information

Symbol

Dmel\Cpes^KO

Species

D. melanogaster

Name

FlyBase ID

FBal0343369

Feature type

allele

Associated gene

Dmel\Cpes

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

ends-out gene targeting

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Kunduri et al., 2018)

Mutagen

ends-out gene targeting

(Kunduri et al., 2018)

Progenitor genotype

Cytology

Description

1560bp deletion that removes the Cpes coding sequence. A single loxP site has been inserted at the site of the deleted sequence.

(Kunduri et al., 2018)

Allele components

Component

Use(s)

Also carries

loxP

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:23,862,937..23,864,496 [-]

Comment:

1560 bp of the Cpes gene corresponding to nucleotides 2,903 to 4,462 of the Cpes extended gene sequence were deleted.

(Kunduri et al., 2018)

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 ( 1 )

Disease

Evidence

References

model of photosensitive epilepsy

CEA

(Kunduri et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of photosensitive epilepsy

is ameliorated by norpA^P24

(Kunduri et al., 2018)

is NOT ameliorated by ninaE¹⁷

(Kunduri et al., 2018)

is ameliorated by Hsap\SGMS1^UAS.Tag:V5

(Kunduri et al., 2018)

is ameliorated by Hsap\SGMS2^UAS.Tag:V5

(Kunduri et al., 2018)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

abdomen | adult stage

(Kunduri et al., 2018)

adult brain

(Kunduri et al., 2018)

adult brain cell body glial cell

(Kunduri et al., 2018)

adult cerebrum

(Kunduri et al., 2018)

adult optic lobe

(Kunduri et al., 2018)

CNS glial cell

(Kunduri et al., 2018)

male germline cell

(Kunduri et al., 2018)

Detailed Description

Statement

Reference

Cpes^KO mutant adult escapers display signs of dorsal closure defects in the abdomen and display signs of epilepsy when shifted from dark to ambient light conditions/visual stimulation: robust seizures, paralysis, tonic-clonic-like activity, recovery seizures, refractory recovery, and complete recovery; increased neuronal activity throughout the brain (i.e. high levels of calcium as assessed by the GCaMP6F reporter) during seizures, which return to baseline when flies recover from the seizure. Males are sterile, as they accumulate germ cells but lack mature sperm.

Cpes^KO mutants show defective cortex glia cells, which fail to establish a honeycomb-like network around the neuronal cell bodies in both the cortical region of the midbrain and in the optic lobes; these defects progress from embryogenesis onwards, with cortex glia cells form aberrant processes that do not establish large chambers and encapsulate neuronal cell bodies. In addition, glial cells are less numerous from second larval instar onwards, as compared to controls.

(Kunduri et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Cpes^KO has paralytic | adult stage | progressive | conditional phenotype, suppressible by norpA^P24

(Kunduri et al., 2018)

Cpes^KO has abnormal locomotor behavior | adult stage | progressive | conditional phenotype, suppressible by norpA^P24