FlyBase Allele Report: Dmel\sav[3]

General Information

Symbol

Dmel\sav³

Species

D. melanogaster

Name

FlyBase ID

FBal0138135

Feature type

allele

Associated gene

Dmel\sav

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(Emoto et al., 2006)

Mutagen

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Nature of the lesion

Statement

Reference

Contains a frameshift mutation and generates a protein consisting of 406 sav encoded amino acids and a C terminal portion of 84 amino acids derived from the use of an alternative open reading frame.

(Tapon et al., 2002)

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 kidney cancer

CEA

(Zeng et al., 2010)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates dentatorubral-pallidoluysian atrophy

modeled by Gug^75QN.UAS

(Napoletano et al., 2011)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal cell polarity | somatic clone

(Zeng et al., 2010)

abnormal neuroanatomy

(Emoto et al., 2006)

abnormal neuroanatomy | adult stage | progressive | somatic clone

(Napoletano et al., 2011)

abnormal neuroanatomy | embryonic stage

(Keder et al., 2015)

abnormal neuroanatomy | embryonic stage | maternal effect

(Keder et al., 2015)

abnormal stress response | somatic clone

(Colombani et al., 2006)

increased cell number | somatic clone

(Zeng et al., 2010, Tapon et al., 2002)

increased occurrence of cell division | adult stage | somatic clone

(Zeng et al., 2010)

lethal (with Df(3R)hh)

(Tapon et al., 2002)

lethal (with sav²)

(Tapon et al., 2002)

lethal (with sav⁴)

(Tapon et al., 2002)

lethal | recessive

(Tapon et al., 2002)

lethal - all die before end of larval stage (with sav¹)

(Tapon et al., 2002)

some die during larval stage (with sav¹)

(Tapon et al., 2002)

visible | somatic clone

(Menut et al., 2007)

Phenotype Manifest In

adult Malpighian tubule | somatic clone

(Zeng et al., 2010)

autophagosome | progressive | somatic clone

(Napoletano et al., 2011)

cell cycle | somatic clone

(Tapon et al., 2002)

dorsal multidendritic neuron ddaC | somatic clone & dendritic tree

(Emoto et al., 2006)

embryonic neuroblast | maternal effect

(Keder et al., 2015)

eye | somatic clone

(Menut et al., 2007, Tapon et al., 2002)

eye disc | somatic clone

(Tapon et al., 2002)

eye photoreceptor cell | progressive | somatic clone

(Napoletano et al., 2011)

eye photoreceptor cell | somatic clone

(Tapon et al., 2002)

haltere | somatic clone

(Tapon et al., 2002)

interommatidial bristle | increased number

(Yin et al., 2013)

mesothoracic tergum | somatic clone

(Tapon et al., 2002)

mitotic spindle | embryonic stage | maternal effect

(Keder et al., 2015)

pigment cell | ectopic | somatic clone

(Tapon et al., 2002)

RP2 motor neuron | embryonic stage

(Keder et al., 2015)

Detailed Description

Statement

Reference

sav³ homozygous mutant embryos display a significant increase in the frequency of hemisegments with abnormal number of neurons in the asymmetrically dividing RP2 neural lineage.

sav³ homozygous embryos from mothers whose germline consisted entirely of sav³ mutant cells (generated by the Ovo[D] germline clone method, which thus are both zygotically and maternally mutant for sav³, display defects in the asymmetric neuroblast (NB) division: disturbed asymmetric localization of polarity and cell-fate determinants as well as high frequency of mitotic spindle orientation defects.

(Keder et al., 2015)

Cells in homozygous clones in the wing disc accumulate F-actin near the apical surface.

(Fernández et al., 2011)

Homozygous clones in the eye show progressive degeneration of photoreceptor cells. Autophagic vesicles with partially degraded content accumulate in the mutant photoreceptor cells compared to wild-type cells.

(Napoletano et al., 2011)

sav³ mutant adult Malpighian tubule clones are significantly enlarged compared to wild-type clones. The mitotic index is increased compared to controls. Mutant clusters typically contain proportionally more renal and nephric stem cells (RNSCs) and renablasts (RBs) compared to control clones. Disrupted cell polarity is observed in mutant cells.

(Zeng et al., 2010)

Animals containing mutant eye discs generated using the eyFLP-cell lethal system eclose, and have overgrown eyes.

Mutant eye discs (generated using the eyFLP-cell lethal system) do not show defects in epithelial organisation or neuronal differentiation.

(Menut et al., 2007)

Heterozygous larvae show no significant defects in dendrite morphology of ddaC neurons.

(Parrish et al., 2007)

Apoptosis is reduced by up to 3-fold in sav³ clones of wing or eye discs in response to γ-rays compared to wild-type tissue.

(Colombani et al., 2006)

sav³ mutant ddaC MARCM clones exhibit dendritic defects, including highly penetrant simplifcation of dendritic trees. In severely affected clones (one fifth), most of the high-order branches are missing, whereas moderately affected clones (approximately 75% of the clones) exhibit a partial loss of their fine branches and major branches.

sav³ heterozygotes do not exhibit an obvious dendritic phenotype.

In sav³ mutants, ddaC dendrites are indistinguishable from wild-type controls at 24-28 hours after egg-laying. By 48-52 hours after egg laying, sav³ mutant dendrites tile the body wall as in wild-type. During the following 24 hours, however, sav³ dendrites disappear from the body wall, implying sav is required for maintenance of the already established tiling of dendrites.

(Emoto et al., 2006)

When somatic clones of sav³ homozygous cells are generated throughout the eye disc using Scer\FLP1^ey.PN, nearly all of the resulting animals survive to eclosion.

(Wu et al., 2003)

Mosaic flies with eyes containing clones homozygous for sav³ (clones generated using the "eyFLP" system) have large eyes, with an increased representation of mutant tissue over wild-type tissue. Clones made in other parts of the fly including the notum and haltere also display outgrowths. In mutant clones in the adult retina, half of all ommatidia lack one or more photoreceptor cells. However there is increased spacing between adjacent ommatidia - there are many additional interommatidial cells. When mutant clones are made in eye imaginal discs, mutant cells continue to proliferate for 12-24 hours after wild-type cells stop dividing, but are eventually able to exit from the cell cycle and undergo terminal differentiation. When examined by flow cytometry, the cycling cells in the anterior portion of the eye disc have a distribution very similar to that of wild-type cells. The mutant cells are slightly smaller than their wild-type counterparts. Posterior to the morphogenetic furrow, mutant cells have an increased proportion of cells in S2 and G2, indicating that the cells continue to cycle.

(Tapon et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

sav[+]/sav³ is an enhancer of visible | adult stage phenotype of Magi^UAS.GFP, Scer\GAL4^GMR.PU

(Zaessinger et al., 2015)

sav[+]/sav³ is an enhancer of partially lethal - majority die phenotype of hpo^+t4.0, hpo^42-20

(Wu et al., 2003)

NOT Enhancer of

Statement

Reference

sav³ is a non-enhancer of abnormal neuroanatomy phenotype of wts^x1

(Emoto et al., 2006)

Suppressor of

Statement

Reference

sav³ is a suppressor | partially of increased cell death phenotype of p53^GMR.Ex

(Colombani et al., 2006)

sav³ is a suppressor | cell autonomous | partially | somatic clone of increased cell death phenotype of hid^Ala5.GMR

(Tapon et al., 2002)

sav³ is a suppressor | cell autonomous | somatic clone of increased cell death phenotype of hid^GMR.PG/W^GMR.PG

(Tapon et al., 2002)

NOT Suppressor of

Statement

Reference

sav³ is a non-suppressor of increased cell death phenotype of Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF, hpo^UAS.cPa

(Pantalacci, 2003)

Other

Statement

Reference

cno², sav[+]/sav³ has abnormal neuroanatomy | embryonic stage phenotype

(Keder et al., 2015)

Pc³, sav[+]/sav³ has abnormal neuroanatomy | dominant | somatic clone phenotype

(Parrish et al., 2007)

sav³, wts^x1/wts[+] has abnormal neuroanatomy phenotype

(Emoto et al., 2006)

Phenotype Manifest In

Enhanced by

Statement

Reference

sav³ has interommatidial bristle | increased number phenotype, enhanceable by sav³

(Yin et al., 2013)

Enhancer of

Statement

Reference

sav[+]/sav³ is an enhancer of eye | adult stage phenotype of Magi^UAS.GFP, Scer\GAL4^GMR.PU

(Zaessinger et al., 2015)

sav³ is an enhancer of interommatidial bristle | increased number phenotype of Mer⁴

(Yin et al., 2013)

sav³ is an enhancer of interommatidial bristle | increased number phenotype of sav³

(Yin et al., 2013)

sav[+]/sav³ is an enhancer of eye photoreceptor cell phenotype of Gug^75QN.UAS, Scer\GAL4^ninaE.PT

(Napoletano et al., 2011)

NOT Enhancer of

Statement

Reference

sav³ is a non-enhancer of dorsal multidendritic neuron ddaC | somatic clone & dendritic tree phenotype of wts^x1

(Emoto et al., 2006)

NOT Suppressor of

Statement

Reference

sav³ is a non-suppressor of adult Malpighian tubule | somatic clone phenotype of Ras85D^ΔC40B

(Zeng et al., 2010)

Other

Statement

Reference

cno², sav[+]/sav³ has RP2 motor neuron | embryonic stage phenotype

(Keder et al., 2015)

Pc³, sav[+]/sav³ has dendrite & dorsal multidendritic neuron ddaC | somatic clone phenotype

(Parrish et al., 2007)

sav³, wts^x1/wts[+] has dorsal multidendritic neuron ddaC | somatic clone & dendritic tree phenotype

(Emoto et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

The proportion of hemisegments with abnormal number of neurons in the asymmetrically dividing RP2 neural lineage is significantly increased in cno²/+;sav³/+ double heterozygous embryos compared to either of the single heterozygotes or wild type.

(Keder et al., 2015)

The rough eye phenotype in adult flies induced by expression of Magi^{Scer\UAS.T:Avic\GFP} under the control of Scer\GAL4^GMR.PU is slightly worsened by combination with single copy of sav³/+.

(Zaessinger et al., 2015)

Mer⁴/sav³ double mutant eyes exhibit a massive increase in the number of supernumerary interommatidial cells, compared to either single mutant.

(Yin et al., 2013)

Ras85D^ΔC40B, sav³ double mutant adult Malpighian tubule clones display only a few differentiated renalcytes (RCs), like the single Ras85D^ΔC40B mutant phenotype.

(Zeng et al., 2010)

Pc³/sav³ double heterozygous larvae show dendritic defects in ddaC neurons; there is a significant reduction in the number of dendritic branchpoints.

(Parrish et al., 2007)

sav³ allows recovery of Df(1)su(s)R194/+ clones in the adult eye in animals with mosaic eyes containing two genotypes of cells with respect to RpL36; cells which are Df(1)su(s)R194/+ and cells in which the haplo-insufficiency of Df(1)su(s)R194/+ for RpL36 has been rescued by RpL36^+t4 (in a wild-type background the Df(1)su(s)R194/+ clones are eliminated by cell competition and are not seen in the adult eye in these animals). sav³ Df(1)su(s)R194/+ cells are present in the wing disc 72 hours after induction and show significantly reduced numbers of dying cells compared to Df(1)su(s)R194/+ clones.

(Tyler et al., 2007)

The p53^GMR.Ex-mediated induction of apoptosis in the posterior portion of late larval eye discs is reduced in sav³ clones.

(Colombani et al., 2006)

sav³/wts^x1 transheterozygotes exhibit simplified dendrites similar to moderately affected sav³ MARCM clones. These double mutants show a severe dendrite effect comparable to wts^x1 MARCM clones.

(Emoto et al., 2006)

Scer\GAL4^GMR.PF-driven hpo^Scer\UAS.cPa expression-induced apoptosis is largely unimpaired in sav³ mutant clones.

(Pantalacci, 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

sav³ is rescued by sav^UAS.cEa/Scer\GAL4^ppk.PG

(Emoto et al., 2006)

Comments

Expression of sav^Scer\UAS.cEa, under the control of Scer\GAL4^ppk.PG largely rescues the dendritic phenotype of sav³.

(Emoto et al., 2006)

sav³ fails to complement the lethality of Df(3R)hh.

(Tapon et al., 2002)

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

Name Synonyms

Secondary FlyBase IDs

References (29)

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