FlyBase Allele Report: Dmel\BicD[r5]

General Information

Symbol

Dmel\BicD^r5

Species

D. melanogaster

Name

FlyBase ID

FBal0316399

Feature type

allele

Associated gene

Dmel\BicD

Associated Insertion(s)

Carried in Construct

Also Known As

Bic-D^r5

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Ran et al., 1994)

Mutagen

ethyl methanesulfonate

(Ran et al., 1994)

Progenitor genotype

BicD^r

(Oh et al., 2000, Ran et al., 1994)

Cytology

Description

Amino acid replacement: ?50term.

(Oh et al., 2000)

Amino acid replacement: K50term.

(Ran et al., 1994)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:17,472,177..17,472,177 [-]

Nucleotide change:

A17472177T

Amino acid change:

K50term | BicD-PA; K50term | BicD-PB; K50term | BicD-PC; K50term | BicD-PD

Reported amino acid change:

K50term

Comment:

This is in addition to the A40V substitution of the parental BicD^r chromosome. Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Ran et al., 1994)

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 spinal muscular atrophy with lower extremity predominant 2A

CEA with BicD^{S103L.UAS.Tag:FLAG}

(Martinez Carrera et al., 2018)

CEA with BicD^{T644M.UAS.Tag:FLAG}

(Martinez Carrera et al., 2018)

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

abnormal locomotor behavior (with Df(2L)TW119)

(Li et al., 2010)

abnormal locomotor behavior | adult stage, with BicD^{S103L.UAS.Tag:FLAG}, Scer\GAL4^Mef2.PR

(Martinez Carrera et al., 2018)

abnormal locomotor behavior | adult stage, with BicD^{S103L.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

abnormal locomotor behavior | adult stage, with BicD^{T644M.UAS.Tag:FLAG}, Scer\GAL4^Mef2.PR

(Martinez Carrera et al., 2018)

abnormal locomotor behavior | adult stage, with BicD^{T644M.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

abnormal locomotor behavior | adult stage, with BicD^UAS.Tag:FLAG, Scer\GAL4^Mef2.PR

(Martinez Carrera et al., 2018)

abnormal neuroanatomy | larval stage, with BicD^{S103L.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

abnormal neuroanatomy | larval stage, with BicD^{T644M.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

abnormal neurophysiology (with Df(2L)TW119)

(Li et al., 2010)

abnormal size | larval stage, with BicD^{S103L.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

abnormal size | larval stage, with BicD^{T644M.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

lethal (with BicD^almond-14.4)

(Jagut et al., 2013)

lethal (with BicD^almond-28.3)

(Jagut et al., 2013)

lethal | recessive

(Ran et al., 1994)

lethal - all die before end of P-stage (with Df(2L)TW119)

(Li et al., 2010)

some die during P-stage (with Df(2L)TW119)

(Li et al., 2010)

uncoordinated

(Ran et al., 1994)

Phenotype Manifest In

centrosome

(Bolivar et al., 2001)

cyst cell of ovary | germline clone

(Huynh and St. Johnston, 2000)

dorsal appendage, with Df(2L)TW119/BicD^H1

(Oh et al., 2000)

dorsal appendage, with Df(2L)TW119/BicD^H2

(Oh et al., 2000)

dorsal appendage, with Df(2L)TW119/BicD^H3

(Oh et al., 2000)

dorsal appendage (with Df(2L)TW119), with BicD^H1

(Oh et al., 2000)

dorsal appendage (with Df(2L)TW119), with BicD^H2

(Oh et al., 2000)

dorsal appendage (with Df(2L)TW119), with BicD^H3

(Oh et al., 2000)

egg, with Df(2L)TW119/BicD^H1

(Oh et al., 2000)

egg, with Df(2L)TW119/BicD^H2

(Oh et al., 2000)

egg (with Df(2L)TW119), with BicD^H1

(Oh et al., 2000)

egg (with Df(2L)TW119), with BicD^H2

(Oh et al., 2000)

egg chamber

(Ran et al., 1994)

egg chamber | cell non-autonomous | germline clone

(Oh and Steward, 2001)

egg chorion, with Df(2L)TW119/BicD^H1

(Oh et al., 2000)

egg chorion, with Df(2L)TW119/BicD^H2

(Oh et al., 2000)

egg chorion (with Df(2L)TW119), with BicD^H1

(Oh et al., 2000)

egg chorion (with Df(2L)TW119), with BicD^H2

(Oh et al., 2000)

embryonic/larval neuromuscular junction (with Df(2L)TW119)

(Li et al., 2010)

embryonic/larval neuromuscular junction | larval stage, with BicD^{S103L.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

embryonic/larval neuromuscular junction | larval stage, with BicD^{T644M.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS

(Martinez Carrera et al., 2018)

embryonic/larval optic stalk

(Dienstbier et al., 2009)

follicle cell | germline clone

(Oh and Steward, 2001)

germarium region 2a

(Mirouse et al., 2006)

larval somatic muscle cell (with Df(2L)TW119)

(Li et al., 2010)

NMJ bouton (with Df(2L)TW119)

(Li et al., 2010)

nurse cell ring canal

(Ran et al., 1994)

photoreceptor cell & nucleus (with Df(2L)TW119)

(Swan et al., 1999)

retina

(Dienstbier et al., 2009)

synaptic vesicle (with Df(2L)TW119)

(Li et al., 2010)

synaptonemal complex | germline clone

(Huynh and St. Johnston, 2000)

yolk granule (with BicD¹)

(Vazquez-Pianzola et al., 2014)

yolk granule (with Df(2L)Exel7068)

(Vazquez-Pianzola et al., 2014)

Detailed Description

Statement

Reference

"Bic-D[mom]" females (BicD^r5/Df(2L)Exel7068 females in which developmental lethality has been rescued using heat-shock induced expression of BicD^hs.PS, and then BicD^hs.PS expression has been stopped once oocyte fate is established by reducing the temperature) mostly lack the enrichment of yolk granules normally seen at the posterior of stage 8-9 oocytes.

(Vazquez-Pianzola et al., 2014)

Zygotic BicD^r5/Df(2L)TW119 mutants very rarely eclose from the pupal case and those that do die over the next few hours. BicD^r5/Df(2L)TW119 mutant third instar larvae have a strongly reduced rate of locomotion during active bouts of crawling. However, they do not exhibit 'tail-flipping' or or synapse retraction phenotypes.

BicD^r5/Df(2L)TW119 mutant neuromuscular junctions (NMJs) display a small, but significant, increase in synaptic bouton number and there is a decrease in muscle size, compared with wild-type.

In BicD^r5/Df(2L)TW119 mutant third instar larvae, amplitudes of evoked excitatory junctional potentials (EJPs) in abdominal muscles (a measure of the extent of neurotransmitter release) are indistinguishable from wild-type for at least 30 minutes of low-frequency electrical stimulation (0.5 Hz) of motor neurons. The amplitude and frequency of spontaneous miniature EJPs (mEJPs) in the mutants are not significantly different from that of wild-type. In contrast, BicD^r5/Df(2L)TW119 mutants are unable to sustain normal levels of neurotransmission during high-frequency electrical stimulation. EJP amplitudes in the mutants declined abnormally rapidly within five minutes of stimulation at 10 Hz. There is an upturn in EJP amplitudes after switching from 10 to 0.5 Hz stimulation in the mutants. The EJP response does not reach wild-type levels in the mutants even one hundred seconds after switching from high- to low-frequency stimulation.

The total amount of the lipophilic dye FM1-43 taken up into boutons during 10 Hz stimulation is significantly reduced in BicD^r5/Df(2L)TW119 mutants, compared with controls. Potassium-induced unloading of FM1-43 (pre-loaded into an internalised vesicle population during stimulation) is defective in BicD^r5/Df(2L)TW119 mutants.

At the ultrastructural level, there are no discernible differences in the overall number or spatial distribution of synaptic vesicles between resting wild-type and BicD^r5/Df(2L)TW119 mutant boutons. The number of vesicles within 250 nm of active zones, as well as the number in contact with the active zone plasma membrane, is also not significantly different in the two genotypes. BicD^r5/Df(2L)TW119 mutant synapses do not contain unusual endocytic intermediates associated with the plasma membrane. There is no evidence for abnormal endocytosis of the plasma membrane either. An abnormal accumulation of densely coated vesicles is also not detectable in the BicD^r5/Df(2L)TW119 synapses. As is the case for resting boutons, no evidence is found for unusual endocytic intermediates, bulk endocytosis or an abnormal build up of densely coated vesicles in the stimulated BicD^r5/Df(2L)TW119 synapses.

There is no significant reduction, per section, in the mitochondrial number and total area occupied by the mitochondria in BicD^r5/Df(2L)TW119 mutant third instar larval NMJ, compared with wild-type.

In the case of resting boutons, there is a modest, but statistically significant, increase in the mean diameter of synaptic vesicles in BicD^r5/Df(2L)TW119 mutant synapses, compared with wild-type, because of an overall shift in the distribution of vesicle sizes. Similarly, there is a subtle, but statistically significant, increase in the diameter of synaptic vesicles in stimulated BicD^r5/Df(2L)TW119 mutants, compared with stimulated wild-type synapses. The overall number and density of vesicles is not, however, discernibly different in stimulated BicD^r5/Df(2L)TW119 mutants, compared with wild-type.

There is a reduction in the average number of vesicles in contact with an active zone plasma membrane in the stimulated BicD^r5/Df(2L)TW119 mutant synapses, compared with the stimulated wild-type synapses.

(Li et al., 2010)

Mutant third instar larvae have mislocalised nuclei in the optic stalk and in the retina.

(Dienstbier et al., 2009)

Meiosis is initiated in all cells in region 2a of the homozygous BicD^r5 germarium, in contrast to the normal initiation of meiosis in two to four cells.

(Mirouse et al., 2006)

In heterozygous mutant animals R-cell precursors migrate as normal.

(Houalla et al., 2005)

The centrosomes of homozygous mutant cysts migrate along the fusome and accumulate in a single cell but they remain attached to the fusome at the anterior of this cell (in contrast to wild type where they migrate posteriorly).

(Bolivar et al., 2001)

The majority of BicD^r5 germline clones contain 16 nurse cells. Upon closer inspection it seen that clones having abnormal numbers of germ-cells are usually found in neighbouring egg chambers. Egg chambers in which follicle cells migrate abnormally between the germline cells are also seen.

(Oh and Steward, 2001)

All the cystocytes adopt the same fate in homozygous germaria in mosaic females. None of the cells form a synaptonemal complex.

(Huynh and St. Johnston, 2000)

The occasional egg produced by BicD^H1, BicD^r5/Df(2L)TW119 females shows a strongly ventralised chorion phenotype and does not develop. 21% of eggs laid by BicD^H2, BicD^r5/Df(2L)TW119 females display a variety of ventralised phenotypes ranging from partially fused dorsal appendages to completely missing dorsal appendages. In rare cases small, collapsed eggs and eggs with an open chorion are observed. ~1% of eggs laid by BicD^H3, BicD^r5/Df(2L)TW119 females display a mildly ventralised dorsal appendage phenotype.

(Oh et al., 2000)

Photoreceptor cell nuclei posterior to the morphogenetic furrow are found more basally in BicD^r5/Df(2L)TW119 eye imaginal discs than in wild-type. Photoreceptor cell nuclei are often found in the axons that project basally from these cells.

(Swan et al., 1999)

Fertile over BicD¹, and viable but sterile over BicD^r or BicD^R26. Lethality is complete at 29^oC, but some adults escape at 18^oC. Survival can be markedly improved by raising the flies on apple juice-agar medium supplemented with live yeast. Resulting adults are uncoordinated and generally die within a couple of days. Ovaries contain only egg chambers with 16 polyploid nuclei and no oocyte. Germ line clones give rise to 16-nurse cell chambers with no oocyte. Reorganization of ring canals does not occur. The largest ring canal does not move to the posterior end of the cluster and is found in apparently random positions in the posterior half of the egg chamber.

(Ran et al., 1994)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Df(2L)TW119/BicD^r5 has abnormal locomotor behavior phenotype, suppressible | partially by Scer\GAL4^1032.hx/EndoA^UAS.cLa

(Li et al., 2010)

NOT suppressed by

Statement

Reference

Df(2L)TW119/BicD^r5 has lethal | P-stage phenotype, non-suppressible by Scer\GAL4^1032.hx/EndoA^UAS.cLa

(Li et al., 2010)

Enhancer of

Statement

Reference

BicD[+]/BicD^r5 is an enhancer of paralytic | recessive | heat sensitive phenotype of shi¹

(Li et al., 2010)

Other

Statement

Reference

BicD^r5, msn⁰³³⁴⁹ has lethal | larval stage phenotype

(Houalla et al., 2005)

BicD[+]/BicD^r5, msn⁰³³⁴⁹ has lethal | larval stage phenotype

(Houalla et al., 2005)

Phenotype Manifest In

Suppressed by

Statement

Reference

Df(2L)TW119/BicD^r5 has embryonic/larval neuromuscular junction phenotype, suppressible by Scer\GAL4^elav-C155/EndoA^UAS.cLa

(Li et al., 2010)

Df(2L)TW119/BicD^r5 has NMJ bouton phenotype, suppressible by Scer\GAL4^elav-C155/EndoA^UAS.cLa

(Li et al., 2010)

Enhancer of

Statement

Reference

BicD^r5 is an enhancer of photoreceptor cell | precursor & nucleus phenotype of Scer\GAL4^unspecified, msn^DN.UAS

(Houalla et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

The time taken for shi¹ flies to be paralysed on shifting to the restrictive temperature is significantly decreased, while time needed for recovery for these mutants on returning to the permissive temperature is significantly increased in a BicD^r5/+ genetic background.

Overexpression of endoA^Scer\UAS.cLa under the control of Scer\GAL4^1032.hx partially suppresses the defects in larval locomotion of BicD^r5/Df(2L)TW119 mutants, but it is insufficient to suppress lethality.

The dye-release defects of BicD^r5/Df(2L)TW119 mutants can be fully suppressed by presynaptic overexpression of endoA^Scer\UAS.cLa under the control of Scer\GAL4^elav-C155.

(Li et al., 2010)

42% of animals expressing msn^DN.Scer\UAS in the developing eye, combined with BicD^r5/+ exhibit a R-cell nuclear migration phenotype.

(Houalla et al., 2005)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

BicD^r5 is rescued by Scer\GAL4^1032.hx/BicD^{UASp.Tag:FLAG.Tag:polyHis}

(Li et al., 2010)

BicD^r5 is rescued by Scer\GAL4^elav-C155/BicD^{UASp.Tag:FLAG.Tag:polyHis}

(Li et al., 2010)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S14A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S14D

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S33A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S34A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S36A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S39A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S45A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^multiple

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S51A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S84A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S103A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S103D

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S103F

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S109A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S186A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S285A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S288A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S285A.S288A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S305A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S310A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S310D

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is rescued by BicD^S305A.S310A

(Koch et al., 2009)

Partially rescued by

BicD^r5 is partially rescued by Scer\GAL4^VGlut1-OK371/BicD^{UASp.Tag:FLAG.Tag:polyHis}

(Li et al., 2010)

Df(2L)Exel7068/BicD^r5 is partially rescued by BicD^A40V

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is partially rescued by BicD^A40V.S103A

(Koch et al., 2009)

Df(2L)Exel7068/BicD^r5 is partially rescued by BicD^A40V.S103F

(Koch et al., 2009)

BicD^r5 is partially rescued by BicD^H3

(Oh et al., 2000)

BicD^r5 is partially rescued by BicD^H1

(Oh et al., 2000)

BicD^r5 is partially rescued by BicD^H2

(Oh et al., 2000)

Not rescued by

BicD^r5 is not rescued by Scer\GAL4^how-24B/BicD^{UASp.Tag:FLAG.Tag:polyHis}

(Li et al., 2010)

Df(2L)Exel7068/BicD^r5 is not rescued by BicD^A40V.S103D

(Koch et al., 2009)

Comments

Ubiquitous expression of BicD^{Scer\UAS.P\T.T:Zzzz\FLAG.T:Zzzz\His6} under the control of Scer\GAL4^1032.hx rescues the larval locomotion phenotype and lethality of BicD^r5/Df(2L)TW119 mutants.

Pan-neuronal expression of BicD^{Scer\UAS.P\T.T:Zzzz\FLAG.T:Zzzz\His6} under the control of Scer\GAL4^elav-C155 rescues the larval locomotion phenotype and lethality of BicD^r5/Df(2L)TW119 mutants.

Expression of BicD^{Scer\UAS.P\T.T:Zzzz\FLAG.T:Zzzz\His6} in muscles under the control of Scer\GAL4^how-24B fails to rescue the larval locomotion phenotype and lethality of BicD^r5/Df(2L)TW119 mutants.

Locomotion of BicD^r5/Df(2L)TW119 mutants is significantly improved by driving expression of BicD^{Scer\UAS.P\T.T:Zzzz\FLAG.T:Zzzz\His6} with the motor-neuronal driver Scer\GAL4^VGlut-OK371. The synapse size and muscle size phenotypes of BicD^r5/Df(2L)TW119 mutants are also rescued by Scer\GAL4^VGlut-OK371-driven expression of BicD^{Scer\UAS.P\T.T:Zzzz\FLAG.T:Zzzz\His6}. However, this is not sufficient to fully restore locomotion or eclosion.

The dye-release defect in BicD^r5/Df(2L)TW119 mutants is fully rescued by expressing BicD^{Scer\UAS.P\T.T:Zzzz\FLAG.T:Zzzz\His6} using the Scer\GAL4^VGlut-OK371 driver.

(Li et al., 2010)

Images (0)

Mutant

Wild-type

Stocks (3)

Bloomington

4553

BicD^r5 cn¹/CyO

96811

w^*; BicD^r5/SM1; P{hsBic-D.scs}94/TM6C, Sb¹

Kyoto

107793

BicD^r5 cn¹/CyO

Notes on Origin

Discoverer

Comments

Gift from Simon Bullock.

(Maybeck and Röper, 2009)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (7)

Reported As

Symbol Synonym

Bic-D^null

(Oh and Steward, 2001)

Bic-D^r5

(Börner et al., 2016, Vazquez-Pianzola et al., 2014, Houalla et al., 2005, Oh and Steward, 2001, Oh et al., 2000, Swan et al., 1999)

BicD^18a

(Suter, 2015.8.17, Maybeck and Röper, 2009)

BicD^18e

(Suter, 2015.8.17)

BicD^R5

(Jagut et al., 2013, Coutelis and Ephrussi, 2007, Vaccari and Ephrussi, 2002, Bullock and Ish-Horowicz, 2001)

BicD^null

(Vazquez-Pianzola et al., 2022)

BicD^r5

(Vazquez-Pianzola et al., 2022, Lund et al., 2021, Nashchekin et al., 2021, Fingerhut et al., 2019, Martinez Carrera et al., 2018, Vazquez-Pianzola et al., 2017, Suter, 2015.8.17, Li et al., 2010, Dienstbier et al., 2009, Koch et al., 2009, Sofola et al., 2007, Bullock et al., 2006, Mirouse et al., 2006)

Name Synonyms

Secondary FlyBase IDs

FBal0038142
FBal0290323

References (28)

Report Sections

Open Close