FlyBase Allele Report: Dmel\β-Spec[GM.UAS]

General Information

Symbol

Dmel\β-Spec^GM.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0265239

Feature type

allele

Associated gene

Dmel\β-Spec

Associated Insertion(s)

Carried in Construct

P{UAS-β-Spec.GM}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Lorenzo et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Lorenzo et al., 2010)

Mutagen

in vitro construct

(Lorenzo et al., 2010)

Progenitor genotype

β-Spec^UAS.cLa

(Lorenzo et al., 2010)

Carried in construct

P{UAS-β-Spec.GM}

Cytology

Description

UAS regulatory sequences drive expression of a mutant form of β-Spec in which the leucine at residue 253 has been replaced by a proline.

(Lorenzo et al., 2010)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

β-Spec

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:17,661,920..17,661,920 [+]

Nucleotide change:

T17661920C

Amino acid change:

L246P | beta-Spec-PA; L246P | beta-Spec-PB; L246P | beta-Spec-PC

Comment:

Analogous to L253P "German mutation" in human SPTBN2 implicated in spinocerebellar ataxia 5; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Lorenzo et al., 2010)

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 spinocerebellar ataxia 5

CEA

(Lorenzo et al., 2010)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of spinocerebellar ataxia 5

is exacerbated by Dhc64C^6-10

(Lorenzo et al., 2010)

is exacerbated by DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Lorenzo et al., 2010)

SPTBN2:p.Leu253Pro

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

spinocerebellar ataxia 5

External database links

ClinVar: SPTBN2_5275

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior, with Scer\GAL4^elav.PU

(Lorenzo et al., 2010)

abnormal neuroanatomy, with Scer\GAL4^elav.PU

(Lorenzo et al., 2010)

abnormal neuroanatomy, with Scer\GAL4^GMR.PF

(Lorenzo et al., 2010)

visible, with Scer\GAL4^GMR.PF

(Lorenzo et al., 2010)

Phenotype Manifest In

embryonic/larval neuromuscular junction, with Scer\GAL4^elav.PU

(Lorenzo et al., 2010)

eye, with Scer\GAL4^GMR.PF

(Lorenzo et al., 2010)

NMJ bouton, with Scer\GAL4^elav.PU

(Lorenzo et al., 2010)

ommatidium, with Scer\GAL4^GMR.PF

(Lorenzo et al., 2010)

vesicle, with Scer\GAL4^elav.PU

(Lorenzo et al., 2010)

Detailed Description

Statement

Reference

Expression of β-Spec^GM.Scer\UAS under the control of Scer\GAL4^GMR.PF produces strong degenerative eye phenotypes.

Expression of β-Spec^GM.Scer\UAS under the control of Scer\GAL4^elav.PU results in a reduced bouton number per muscle area in neuromuscular junctions on ventral longitudinal muscles 6/7 of larval abdominal segments 2 and 3. Third instar larvae also exhibit a "tail-flip" crawling phenotype due to paralysis of the posterior segments of the body.

Axonal swellings are also observed (visualised by accumulation of Syt1) and vesicle movement is disrupted in segmental axons, with vesicles exhibiting frequent reversals in the direction of transport and travelling for much shorter distances in any one direction compared to controls.Synaptic vesicles travel significantly more slowly than control vesicles in both directions when one copy of β-Spec^AM.Scer\UAS is expressed in motor neurons under the control of Scer\GAL4^D42.

(Lorenzo et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

β-Spec^GM.UAS, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Dhc64C[+]/Dhc64C^6-10

(Lorenzo et al., 2010)

β-Spec^GM.UAS, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Gl[+]/DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

Enhancer of

Statement

Reference

β-Spec^GM.UAS/Scer\GAL4^GMR.PF is an enhancer of visible | adult stage phenotype of DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

Phenotype Manifest In

Enhanced by

Statement

Reference

β-Spec^GM.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Dhc64C[+]/Dhc64C^6-10

(Lorenzo et al., 2010)

β-Spec^GM.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by Dhc64C[+]/Dhc64C^6-10

(Lorenzo et al., 2010)

β-Spec^GM.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Gl[+]/DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

β-Spec^GM.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by Gl[+]/DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

Enhancer of

Statement

Reference

β-Spec^GM.UAS/Scer\GAL4^GMR.PF is an enhancer of eye phenotype of DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

β-Spec^GM.UAS/Scer\GAL4^GMR.PF is an enhancer of ommatidium phenotype of DCTN1-p150^Gl-1

(Lorenzo et al., 2010)

Other

Statement

Reference

β-Spec^GM.UAS, Dhc64C[+]/Dhc64C^6-10, Scer\GAL4^GMR.PF has interommatidial bristle phenotype

(Lorenzo et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

The rough eye phenotype that is observed when β-Spec^GM.Scer\UAS is expressed under the control of Scer\GAL4^GMR.PF is enhanced in a Dhc64C^6-10/+ background. Severe eye phenotypes are seen involving disruptions of the ommatidial hexagonal packaging and loss of interommatidial bristles.

Expression of one copy of β-Spec^GM.Scer\UAS under the control of Scer\GAL4^GMR.PF in a Gl¹/+ mutant background enhances the rough eye and ommatidial disorganisation phenotypes seen in either mutant alone. Eyes from double mutant flies are reduced in size and show a dramatic roughness of the eye surface.

(Lorenzo et al., 2010)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

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

β-Spec^GM.Scer\UAS

β-Spec^GM.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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