FlyBase Allele Report: Dmel\cac[exon7Δ]

General Information

Symbol

Dmel\cac^exon7Δ

Species

D. melanogaster

Name

FlyBase ID

FBal0345159

Feature type

allele

Associated gene

Dmel\cac

Associated Insertion(s)

TI{TI}cac^exon7Δ

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

CRISPR/Cas9

(Lembke et al., 2019)

gene targeting by homologous recombination

(Lembke et al., 2019)

Progenitor genotype

Associated Insertion(s)

TI{TI}cac^exon7Δ

Cytology

Description

Deletion in the endogenous cac locus, removing sequence that encodes exon 7 (41bp of intron sequence on the 5' side and 27bp of intron sequence on the 3' side of the exon are also removed). Sequence consisting of an attP site plus a loxP cassette containing the Disc\RFP^DsRed2.3xP3 marker has been inserted in place of the deleted sequence (this sequence is excluded during splicing to generate mRNA).

(Lembke et al., 2019)

Allele components

Component

Use(s)

Also carries

attP

integrase target site

loxP

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

X:11,938,894..11,939,162 [-]

Comment:

Deletion in the endogenous cac locus removing an entire exon as well as 41bp of intron sequence on the 5' side and 27bp of intron sequence on the 3' side. An attP site plus a loxP cassette containing the Disc\RFP^DsRed2.3xP3 marker is inserted in its place. These sequences are removed during splicing to generate the mRNA.

(Lembke et al., 2019)

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

Phenotype Manifest In

embryonic/larval neuromuscular junction | male | third instar larval stage

(Lembke et al., 2019)

Detailed Description

Statement

Reference

cac^exon7Δ mutant adult male show significantly reduced levels of activity (as measured in a bioactivity recorder) but does not significantly affect their climbing ability, as compared to controls; the expression of cac^UAS.EGFP under the control of Scer\GAL4^Appl.G1a rescues the reduced levels of activity, to the point of even inducing a significantly higher activity than controls.

cac^exon7Δ mutant third instar larvae also present a male-only, significant decreases in crawling distance and peristaltic wave frequency, as compared to controls. Their NMJs display a significant decrease in mEPP frequency but no significant changes in mEPP or EPP amplitude, as compared to controls. There is also a significant reduction in the frequency of non-random motor bursts in abdominal segments 2 and 7, as compared to controls.

(Lembke et al., 2019)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

cac^exon7Δ has abnormal locomotor behavior | male | adult stage phenotype, suppressible by Dp(1;3)DC131

(Lembke et al., 2019)

cac^exon7Δ has abnormal locomotor behavior | male limited | third instar larval stage phenotype, suppressible by Dp(1;3)DC131