FlyBase Allele Report: Dmel\Hsc70-4[Δ356]

General Information

Symbol

Dmel\Hsc70-4^Δ356

Species

D. melanogaster

Name

FlyBase ID

FBal0124174

Feature type

allele

Associated gene

Dmel\Hsc70-4

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

P-element activity

Nature of the Allele

Allele class

loss of function allele

(Bronk et al., 2001)

Mutagen

P-element activity

(Bronk et al., 2001)

Progenitor genotype

Hsc70-4⁰³⁵⁵⁰

(Bronk et al., 2001)

Caused by aberration

Df(3R)Hsc70-4^Δ356

Cytology

Description

Df(3R)Hsc70-4^Δ356 has a breakpoint just 3' of the end of the Hsc70-4 coding region. Deletion spans nucleotides -4357 to +4456.

(Bronk et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:15,238,332..15,247,104 [+]

Comment:

Imprecise excision of the EP(3)0859 P-element, deleting 8773 nucleotides, including the entire Hsc70-4 gene. Position of mutation on reference sequence inferred by FlyBase curator.

(Bronk et al., 2001)

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 ( 1 )

Disease

Interaction

References

ameliorates neuronal ceroid lipofuscinosis 4

modeled by Hsap\DNAJC5^L116Δ.UAS

(Imler et al., 2019)

modeled by Hsap\DNAJC5^L115R.UAS

(Imler et al., 2019)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | larval stage (with Hsc70-4^Δ19)

(Bronk et al., 2001)

lethal - all die before end of larval stage | recessive

(Bronk et al., 2001)

some die during larval stage | recessive

(Bronk et al., 2001)

Phenotype Manifest In

axon | larval stage

(Bronk et al., 2001)

larval muscle system

(Bronk et al., 2001)

Detailed Description

Statement

Reference

Homozygous larvae show sporadic but reduced muscle contractions. The quantal content of evoked release in homozygotes and Hsc70-4^Δ19/Hsc70-4^Δ356 transheterozygotes is reduced to a third to a half of control. The EJP amplitudes recorded from mutant neuromuscular junctions (NMJs) are reduced to about 3/4 of control amplitudes.

(Bronk et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsc70-4^Δ356 has axon | larval stage phenotype, enhanceable by Csp^X1

(Bronk et al., 2001)

Enhancer of

Statement

Reference

Hsc70-4^Δ356 is an enhancer of axon | larval stage phenotype of Csp^X1

(Bronk et al., 2001)

Additional Comments

Genetic Interactions

Statement

Reference

The EJP amplitudes recorded from Hsc70-4^Δ356, Csp^X1 double mutant neuromuscular junctions (NMJs) are reduced to about 1/2 of control amplitudes.

(Bronk et al., 2001)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsc70-4^Δ356

hsc70-4^Δ356

(Imler et al., 2019)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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