FlyBase Allele Report: Dmel\LamC[R564P.UAS]

General Information

Symbol

Dmel\LamC^R564P.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0385557

Feature type

allele

Associated gene

Dmel\LamC

Associated Insertion(s)

Carried in Construct

P{UAS-LamC.R564P}

Also Known As

LamC R564P

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Shaw et al., 2022)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Shaw et al., 2022)

Mutagen

in vitro construct

(Shaw et al., 2022)

Progenitor genotype

Carried in construct

P{UAS-LamC.R564P}

Cytology

Description

UASt regulates expression of R564P LamC, modeling the R527P mutation in human Hsap\LMNA associated with muscular dystrophy.

(Shaw et al., 2022)

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:14,571,488..14,571,488 [-]

Nucleotide change:

G14571488C

Amino acid change:

R564P | LamC-PA; R564P | LamC-PB

Reported amino acid change:

R564P

Comment:

Analogous R527P mutation in human LMNA implicated in muscular dystrophy, lamin-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Shaw et al., 2022)

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 autosomal dominant Emery-Dreifuss muscular dystrophy 2

CEA

(Walker et al., 2023)

CEC

(Shaw et al., 2022)

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.

(Shaw et al., 2022)

LMNA:p.Arg527Pro

(FlyBase curators, 2019-)

Variants Synonym(s)

LMNA:p.Arg446Pro

LMNA:p.Arg415Pro

Associated human disease model(s)

External database links

ClinVar: 14481

Comments concerning this variant

Phenotypic Data

Phenotypic Class

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

(Mohar et al., 2025)

abnormal size | larval stage, with Scer\GAL4^C57

(Walker et al., 2023)

decreased cell size | larval stage, with Scer\GAL4^Lsp2.PH

(Walker et al., 2023)

decreased rate of larval locomotory behavior, with Scer\GAL4^C57

(Mohar et al., 2025, Walker et al., 2023)

decreased size | larval stage, with Scer\GAL4^C57

(Mohar et al., 2025)

lethal, with Scer\GAL4^C57

(Walker et al., 2023)

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

(Mohar et al., 2025, Shaw et al., 2022)

short lived, with Scer\GAL4^HCH.Hand

(Walker et al., 2023)

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

(Mohar et al., 2025, Walker et al., 2023)

visible | adult stage, with Scer\GAL4^Act88F.PU

(Mohar et al., 2025)

Phenotype Manifest In

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

(Mohar et al., 2025, Walker et al., 2023, Shaw et al., 2022)

larval fat cell, with Scer\GAL4^Lsp2.PH

(Walker et al., 2023)

wing, with Scer\GAL4^Act88F.PU

(Mohar et al., 2025)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

LamC^R564P.UAS, Scer\GAL4^Act88F.PU has visible | adult stage phenotype, enhanceable by Dad^P455R

(Mohar et al., 2025)

LamC^R564P.UAS, Scer\GAL4^C57 has increased mortality during development phenotype, enhanceable by Dad^P455R

(Mohar et al., 2025)

LamC^R564P.UAS, Scer\GAL4^C57 has decreased rate of larval locomotory behavior phenotype, enhanceable by Dad^P455R

(Mohar et al., 2025)

Suppressed by

Statement

Reference

LamC^R564P.UAS, Scer\GAL4^C57 has decreased rate of larval locomotory behavior phenotype, suppressible | partially by Dad^UAS.cTa, Scer\GAL4^C57

(Mohar et al., 2025)

LamC^R564P.UAS, Scer\GAL4^C57 has abnormal behavior | larval stage phenotype, suppressible by Dad^UAS.cTa, Scer\GAL4^C57

(Mohar et al., 2025)

LamC^R564P.UAS, Scer\GAL4^C57 has decreased size | larval stage phenotype, suppressible | partially by Dad^UAS.cTa, Scer\GAL4^C57

(Mohar et al., 2025)

Enhancer of

Statement

Reference

Scer\GAL4^C57/LamC^R564P.UAS is an enhancer of decreased rate of larval locomotory behavior phenotype of Dad^P455R

(Mohar et al., 2025)

Phenotype Manifest In

Enhanced by

Statement

Reference

LamC^R564P.UAS, Scer\GAL4^Act88F.PU has wing phenotype, enhanceable by Dad^P455R

(Mohar et al., 2025)

Suppressed by

Statement

Reference

LamC^R564P.UAS, Scer\GAL4^C57 has embryonic/larval hypodermal muscle | larval stage phenotype, suppressible | partially by Dad^UAS.cTa, Scer\GAL4^C57

(Mohar et al., 2025)

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^R564P.UAS

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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