FlyBase Allele Report: Dmel\LamC[A177P.UAS]

General Information

Symbol

Dmel\LamC^A177P.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0348116

Feature type

allele

Associated gene

Dmel\LamC

Associated Insertion(s)

Carried in Construct

P{UAS-LamC.A177P}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Chandran et al., 2019)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Chandran et al., 2019)

Mutagen

in vitro construct

(Chandran et al., 2019)

Progenitor genotype

Carried in construct

P{UAS-LamC.A177P}

Cytology

Description

UASt regulatory sequences drive expression of LamC containing the amino acid replacement A177P (this is equivalent to a L162P mutation in the human Hsap\LMNA gene).

(Chandran et al., 2019)

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:14,572,720..14,572,720 [-]

Nucleotide change:

G14572720C

Reported nucleotide change:

GCC>CCC

Amino acid change:

A177P | LamC-PA; A177P | LamC-PB

Reported amino acid change:

A177P

Comment:

Analogous L162P mutation in human LMNA implicated in dilated cardiomyopathy 1A; mutation carried on in vitro construct.

(Chandran et al., 2019)

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 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.

(Chandran et al., 2019)

LMNA:p.Leu162Pro

(FlyBase curators, 2019-)

Variants Synonym(s)

LMNA:p.Leu50Pro

LMNA:p.Leu81Pro

Associated human disease model(s)

dilated cardiomyopathy 1A

External database links

ClinVar: LMNA_48068

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal flight | progressive, with LamC^EX296, Scer\GAL4^fln.IFM

(Chandran et al., 2019)

abnormal flight | progressive, with Scer\GAL4^Act88F.PB

(Chandran et al., 2019)

abnormal flight | progressive, with Scer\GAL4^EDTP-DJ694

(Chandran et al., 2019)

abnormal flight | progressive, with Scer\GAL4^fln.IFM

(Chandran et al., 2019)

Phenotype Manifest In

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

(Chandran et al., 2019)

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

(Chandran et al., 2019)

mitochondrion | 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)

Detailed Description

Statement

Reference

The expression of LamC^A177P.UAS under the control of Scer\GAL4^fln.IFM, Scer\GAL4^Act88F.PB or Scer\GAL4^EDTP-DJ694 leads to a mild but progressive decrease in flight ability; the Scer\GAL4^fln.IFM-driven flight defects are also observed in a LamC^EX296 heterozygous background.

Adult indirect flight muscles expressing LamC^A177P.UAS under the control of either Scer\GAL4^fln.IFM or Scer\GAL4^EDTP-DJ694 show abnormal nuclear morphology, including nuclear envelope blebbing. The Scer\GAL4^fln.IFM-driven expression also leads to fragmented mitochondria.

(Chandran et al., 2019)

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 (1)

Reported As

Symbol Synonym

LamC^A177P.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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