FlyBase Allele Report: Dmel\Cln7[84D]

General Information

Symbol

Dmel\Cln7^84D

Species

D. melanogaster

Name

FlyBase ID

FBal0356095

Feature type

allele

Associated gene

Dmel\Cln7

Associated Insertion(s)

P{?GawB}Cln7^84D

Carried in Construct

Key Links

Allele class

loss of function allele

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

loss of function allele

(Connolly et al., 2019)

Mutagen

Delta2-3 transposase

(Connolly et al., 2019)

Progenitor genotype

P{GawB}NP0345

(Connolly et al., 2019)

Associated Insertion(s)

P{?GawB}Cln7^84D

Cytology

Description

Imprecise excision of P{GawB} results in partial deletion of Cln7 (exons 1-5 were excised, with some P-element sequence remaining).

(Connolly et al., 2019)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 neuronal ceroid lipofuscinosis 7

CEA

(Connolly et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of neuronal ceroid lipofuscinosis 7

is exacerbated by rictor^Δ42

(Connolly et al., 2019)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | third instar larval stage

(Connolly et al., 2019)

abnormal neurophysiology | third instar larval stage

(Connolly et al., 2019)

fertile

(Connolly et al., 2019)

viable

(Connolly et al., 2019)

Phenotype Manifest In

Detailed Description

Statement

Reference

Cln7^84D homozygous and Cln7^84D/Cln7^36H transheterozygous third instar larval neuromuscular junctions exhibit reductions in type Ib bouton, but not type Is bouton, volume and active zone number; there is also a reduction in bouton number.

Cln7^84D homozygous third instar larvae do not show significant decrease in mEJP frequency or amplitude, or EJP amplitude, as compared to controls; upon a 5Hz stimulation train, however, there is a more pronounced decrease in EJP than in controls. In agreement, larvae show lower crawling ability.

(Connolly et al., 2019)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Cln7^84D, sax⁴/sax⁵ has lethal - all die before end of second instar larval stage phenotype

(Connolly et al., 2019)

Phenotype Manifest In