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General Information

Symbol

Dmel\sand^Δ

Species

D. melanogaster

Name

FlyBase ID

FBal0351738

Feature type

allele

Associated gene

Dmel\sand

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

loss of function allele

Mutagen

FLPase

Nature of the Allele

Allele class

loss of function allele

(Klassen et al., 2017)

Mutagen

FLPase

(Klassen et al., 2017)

Progenitor genotype

PBac{RB}sand^e00867

(Klassen et al., 2017)

PBac{RB}uno^e00152

(Klassen et al., 2017)

Caused by aberration

Df(2R)sand^Δ

Cytology

Description

FRT-mediated recombination between the progenitors (PBac{RB}sand^e00867 andPBac{RB}CG8712^e00152) results in deletion of the entiresand coding sequence along with most of theCG8712 coding sequence.

(Klassen et al., 2017)

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 heart conduction disease

CEA

(Klassen et al., 2017)

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

adult heart

(Klassen et al., 2017)

adult heart (withDf(2R)BSC267)

(Klassen et al., 2017)

sarcomere |adult stage

(Klassen et al., 2017)

Detailed Description

Statement

Reference

sand^Δ homozygous adults exhibit age-dependent heart function defects, namely a decreased ability to transition from heart contraction to heart relaxation, with some animals rarely or never displaying heart relaxation; they display increased heartbeat period, increased systolic and diastolic intervals, decreased fractional shortening, decreased stroke volume, decreased number of contractions and decreased cardiac output. Individual sarcomeres exhibit a fibrillatory state during extended systoles, contracting and relaxing out of phase with one another.

Agedsand^Δ/Df(2R)BSC267 transheterozygous adults also exhibit increased heartbeat period, increased systolic and diastolic intervals, decreased number of contractions and decreased cardiac output.

(Klassen et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

sand^Δ is rescued byScer\GAL4^GMR94C02/sand^UAS.GFP

(Klassen et al., 2017)

sand^Δ is rescued byScer\GAL4^tin.CΔ4/sand^UAS.GFP

(Klassen et al., 2017)

Not rescued by

sand^Δ is not rescued byScer\GAL4^GMR37B05/sand^UAS.GFP

(Klassen et al., 2017)

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

sand^Δ

sandman^Δ

(Klassen et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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