FlyBase Allele Report: Dmel\Sap-r[C27]

General Information

Symbol

Dmel\Sap-r^C27

Species

D. melanogaster

Name

FlyBase ID

FBal0325022

Feature type

allele

Associated gene

Dmel\Sap-r

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Hindle et al., 2017)

Mutagen

P-element activity

(Hindle et al., 2017)

Progenitor genotype

P{GawB}Sap-r^NP7456

(Hindle et al., 2017)

Cytology

Description

Imprecise excision of P{GawB}Sap-r^NP7456 results in a 2.5kb deletion, the first two exons of Sap-r.

(Hindle et al., 2017)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:30,887,659..30,890,187 [-]

Comment:

2529 bp deletion resulting from the imprecise excsion of P{GawB}Sap-r^NP7456, which removes the first two exons of Sap-r.

(Hindle and Sweeney, 2017.7.20)

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 lysosomal storage disease

CEA

(Hindle et al., 2017)

CEA with Sap-r^e01294

(Hindle et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of lysosomal storage disease

is ameliorated by Sap-r^UAS.cHa

(Hindle et al., 2017)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage | progressive (with Df(3R)tll-e)

(Hindle et al., 2017)

abnormal locomotor behavior | adult stage | progressive (with Sap-r^e01294)

(Hindle et al., 2017)

abnormal neuroanatomy | adult stage | progressive (with Df(3R)tll-e)

(Hindle et al., 2017)

abnormal neuroanatomy | adult stage | progressive (with Sap-r^e01294)

(Hindle et al., 2017)

abnormal neurophysiology | adult stage | progressive (with Df(3R)tll-e)

(Hindle et al., 2017)

increased cell size | adult stage | adult stage (with Df(3R)tll-e)

(Hindle et al., 2017)

short lived (with Df(3R)tll-e)

(Hindle et al., 2017)

short lived (with Sap-r^e01294)

(Hindle et al., 2017)

Phenotype Manifest In

adult antennal lobe (with Df(3R)tll-e)

(Hindle et al., 2017)

adult antennal lobe | progressive (with Df(3R)tll-e)

(Hindle et al., 2017)

adult antennal lobe | progressive (with Sap-r^e01294)

(Hindle et al., 2017)

adult glial cell (with Df(3R)tll-e)

(Hindle et al., 2017)

adult optic lobe | progressive (with Df(3R)tll-e)

(Hindle et al., 2017)

adult optic lobe | progressive (with Sap-r^e01294)

(Hindle et al., 2017)

eye | progressive (with Df(3R)tll-e)

(Hindle et al., 2017)

eye | progressive (with Sap-r^e01294)

(Hindle et al., 2017)

lamellar body | adult stage (with Df(3R)tll-e)

(Hindle et al., 2017)

multivesicular body | adult stage (with Df(3R)tll-e)

(Hindle et al., 2017)

neuron | adult stage (with Df(3R)tll-e)

(Hindle et al., 2017)

rhabdomere (with Df(3R)tll-e)

(Hindle et al., 2017)

Detailed Description

Statement

Reference

Sap-r^C27/Df(3R)tll-e and Sap-r^C27/Sap-r^e01294 flies exhibit a significantly reduced lifespan as compared to wild type, and progressive climbing defects, as compared to Sap-r^C27/+ controls. Sap-r^C27/Df(3R)tll-e and Sap-r^C27/Sap-r^e01294 flies also show progressive neurodegeneration, as evidenced by severe progressive vacuolization of antennal lobes, eye, and optic lobes, in contrast to wild type or Sap-r^C27/+ controls.

Sap-r^C27/Df(3R)tll-e mutants show significant age-related deterioration in their ability to respond to light as measured by electroretinogram, compared with controls. The neurons in Sap-r^C27/Df(3R)tll-e mutant antennal lobes have soma that are consistently and grossly enlarged with electron-dense storage material, in contrast to wild type; glial cells of the Sap-r^C27/Df(3R)tll-e CNS exhibit cell enlargement; these mutants also show an increase in multilamellar bodies and multivesicular bodies in the cortex surrounding the antennal lobes. Some rhabdomeres in Sap-r^C27/Df(3R)tll-e mutants show massive accumulation of electron-dense material.

(Hindle et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Df(3R)tll-e/Sap-r^C27 has abnormal neurophysiology | adult stage | progressive phenotype, enhanceable by Calx^ninaE.PW

(Hindle et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Df(3R)tll-e/Sap-r^C27 has eye | progressive phenotype, enhanceable by Calx^ninaE.PW

(Hindle et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Calx^ninaE.PW exacerbates the age-related deterioration of visual function seen in Sap-r^C27/Df(3R)tll-e mutants, as measured via electroretinogram recording.

(Hindle et al., 2017)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescued by

Df(3R)tll-e/Sap-r^C27 is partially rescued by Scer\GAL4^insc-Mz1407/Sap-r^UAS.cHa

(Hindle et al., 2017)

Sap-r^C27/Sap-r^e01294 is partially rescued by Scer\GAL4^insc-Mz1407/Sap-r^UAS.cHa

(Hindle et al., 2017)

Sap-r^C27/Sap-r^e01294 is partially rescued by Scer\GAL4^repo.PU/Sap-r^UAS.cHa

(Hindle et al., 2017)

Comments

Expression of Sap-r^Scer\UAS.cHa under the control of Scer\GAL4^insc-Mz1407 partially rescues the shortened lifespan of Sap-r^C27/Df(3R)tll-e and Sap-r^C27/Sap-r^e01294 mutants.

Expression of Sap-r^Scer\UAS.cHa under the control of Scer\GAL4^repo.PU partially rescues the shortened lifespan of Sap-r^C27/Sap-r^e01294 mutants.

(Hindle et al., 2017)

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

Sap-r^C27

(Hindle and Sweeney, 2017.7.20)

dSap-r^C27

(Hindle et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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