FlyBase Allele Report: Dmel\LamC[V528P.UAS]

General Information

Symbol

Dmel\LamC^V528P.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0282443

Feature type

allele

Associated gene

Dmel\LamC

Associated Insertion(s)

Carried in Construct

P{UAS-LamC.V528P}

Also Known As

V528P

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Dialynas et al., 2012)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Dialynas et al., 2012)

Mutagen

in vitro construct

(Dialynas et al., 2012)

Progenitor genotype

Carried in construct

P{UAS-LamC.V528P}

Cytology

Description

UASt regulatory sequences drive expression of LamC containing the amino acid replacement V528P (this is equivalent to a L489P mutation in the human Hsap\LMNA gene).

(Dialynas et al., 2012)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

LamC

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:14,571,595..14,571,597 [-]

Reported amino acid change:

V528P

Comment:

Mutation in analogous codon in human LMNA putatively associated with muscular dystropy; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Dialynas et al., 2012)

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 myopathy

CEA

(Dialynas et al., 2012)

model of muscular dystrophy

CEA

(Dialynas et al., 2015)

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Chandran et al., 2019)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Dialynas et al., 2012)

LMNA:p.Leu489Pro

(FlyBase curators, 2019-)

Variants Synonym(s)

LMNA:p.Leu377Pro

LMNA:p.Leu408Pro

Associated human disease model(s)

muscular dystrophy, lamin-related

External database links

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal flight, with Scer\GAL4^EDTP-DJ694

(Chandran et al., 2019)

abnormal locomotor behavior | larval stage, with Scer\GAL4^C57

(Dialynas et al., 2015)

abnormal locomotor behavior | third instar larval stage, with Scer\GAL4^C57

(Dialynas et al., 2012)

flightless | progressive, with Scer\GAL4^Act88F.PB

(Chandran et al., 2019)

flightless | progressive, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

lethal, with Scer\GAL4^Mef2.PR

(Dialynas et al., 2012)

partially lethal - majority die, with Scer\GAL4^C57

(Dialynas et al., 2012)

some die during P-stage, with Scer\GAL4^C57

(Dialynas et al., 2015)

viable, with Scer\GAL4^ey.PU

(Dialynas et al., 2012)

viable, with Scer\GAL4^Mhc.PU

(Dialynas et al., 2012)

Phenotype Manifest In

actin cytoskeleton | larval stage, with Scer\GAL4^C57

(Dialynas et al., 2015)

embryonic/larval hypodermal muscle cell | larval stage, with Scer\GAL4^C57

(Dialynas et al., 2015)

indirect flight muscle cell | adult stage | progressive, with Scer\GAL4^EDTP-DJ694

(Chandran et al., 2019)

indirect flight muscle cell | adult stage | progressive, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

leg, with Scer\GAL4^C57

(Dialynas et al., 2012)

myofibril | adult stage, with Scer\GAL4^EDTP-DJ694

(Chandran et al., 2019)

myofibril | adult stage, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

nuclear envelope | adult stage, with Scer\GAL4^EDTP-DJ694

(Chandran et al., 2019)

nuclear envelope | adult stage, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

nucleus | adult stage, with Scer\GAL4^EDTP-DJ694

(Chandran et al., 2019)

nucleus | adult stage, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

nucleus | larval stage, with Scer\GAL4^C57

(Dialynas et al., 2015)

pupa, with Scer\GAL4^C57

(Dialynas et al., 2012)

wing, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

Detailed Description

Statement

Reference

The expression of LamC^V528P.UAS under the control of Scer\GAL4^fln.IFM or Scer\GAL4^Act88F.PB leads to a severe and progressive decrease in flight ability, until individuals are unable to fly; expression under the control of Scer\GAL4^EDTP-DJ694 leads to a mild decrease in flight ability.

Adult indirect flight muscles expressing LamC^V528P.UAS under the control of either Scer\GAL4^fln.IFM or Scer\GAL4^EDTP-DJ694 show myofibril disorganization, abnormal nuclear morphology, including nuclear envelope blebbing, and nuclear misalignment. The Scer\GAL4^fln.IFM-driven expression also leads to a nearly fully penetrant 'held-up wing' phenotype.

(Chandran et al., 2019)

Expression of LamC^{V528P.Scer\UAS} under the control of Scer\GAL4^C57 leads to larval locomotion defects and semi-lethality at the pupal stage. A subset of the larval body wall muscles show abnormally shaped and spaced nuclei, and disorganization of the actin cytoskeleton.

(Dialynas et al., 2015)

Third instar larvae expressing LamC^{V528P.Scer\UAS} under the control of Scer\GAL4^C57 show reduced mobility. Myonuclei appear aggregated in approximately 30% of body wall muscles.

(Dialynas et al., 2012)

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

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

LamC^{V528P.Scer\UAS}

LamC^V528P.UAS

V528P

(Dialynas et al., 2015)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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