FlyBase Allele Report: Dmel\Smox[G0348]

General Information

Symbol

Dmel\Smox^G0348

Species

D. melanogaster

Name

FlyBase ID

FBal0103742

Feature type

allele

Associated gene

Dmel\Smox

Associated Insertion(s)

P{lacW}Smox^G0348

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Schäfer et al., 1999.12.2)

Progenitor genotype

Associated Insertion(s)

P{lacW}Smox^G0348

Cytology

Description

Allele components

Component

Use(s)

Inserted element

P{lacW}

enhancer trap

Encoded product / tool

lacZ

reporter enzyme

Tagged with

Tag:NLS(P)

nuclear protein localization tag

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

transposable_element_insertion_site

X:8,141,786..8,142,375 [+]

(Peterson et al., 2012, Peter et al., 2002, Schäfer et al., 1999.12.2)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

AJ426765

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 muscular dystrophy

modeled by Scgδ⁸⁴⁰

(Goldstein et al., 2011)

ameliorates cardiomyopathy

modeled by Scgδ⁸⁴⁰

(Goldstein et al., 2011)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Smox^G0348 suppresses the heart tube dysfunction component of muscular dystrophy in Scgδ⁸⁴⁰ flies, as well as muscle dysfunction.

(Goldstein et al., 2011)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

lethal - all die before end of P-stage

(Peter et al., 2002)

partially lethal - majority die | recessive

(Schäfer et al., 1999.12.2)

some die during pharate adult stage

(Peter et al., 2002)

Phenotype Manifest In

chaeta

(Peter et al., 2002)

wing

(Peter et al., 2002)

Detailed Description

Statement

Reference

Pharate adults have short wings and short disorganised bristles.

(Peter et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Smox^G0348/Smox[+] is a suppressor of abnormal locomotor behavior | adult stage phenotype of Scgδ⁸⁴⁰

(Goldstein et al., 2011)

Phenotype Manifest In

Suppressor of

Statement

Reference

Smox^G0348/Smox[+] is a suppressor of adult heart phenotype of Scgδ⁸⁴⁰

(Goldstein et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

The severe loss of climbing ability in a negative geotaxis assay which is seen in Scgδ⁸⁴⁰ mutants is suppressed if the flies are also carrying Smox^G0348/+.

The dilated heart tube seen in Scgδ⁸⁴⁰ adults (detected as increased end-systolic and end-diastolic diameters as measured by optical coherence tomography) is rescued if the flies are carrying Smox^G0348/+.

(Goldstein et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

12246

w^67c23 P{lacW}Smox^G0348/FM7c

Notes on Origin

Discoverer

Comments

P{lacW} not verified as causing the lethality.

(Schäfer et al., 1999.12.2)

External Crossreferences and Linkouts ( 1 )

Crossreferences

GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.

AJ426765

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Smox^G0348

(Goldstein et al., 2011, Popodi et al., 2010-)

l(1)G0348

(Peter et al., 2002)

l(1)G0348^G0348

(Schäfer et al., 1999.12.2)

smox^G0348

(Peterson et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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