ZFIN Gene: lmna

ZFIN ID: ZDB-GENE-020424-3

ZFIN ID: ZDB-GENE-020424-3

Gene Name:

lamin A

Gene Symbol:

lmna Nomenclature History

Previous Names:

cb948 (1), wu:fk66d12 (1)

Gene Type:

protein_coding_gene

Location:

Chr: 16 Mapping Details/Browsers

Description:

Involved in heart contraction and regulation of cell aging. Predicted to localize to intermediate filament. Is expressed in several structures, including fin; head; mesoderm; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2B1; intrinsic cardiomyopathy (multiple); lipodystrophy (multiple); muscular dystrophy (multiple); and type 2 diabetes mellitus (multiple). Orthologous to human LMNA (lamin A/C).

Genome Resources:

Alliance (1), Gene:195815 (1), Ensembl(GRCz11):ENSDARG00000013415 (2)

GENE EXPRESSION
All Expression Data:	13 figures from 5 publications
Directly Submitted Expression Data:	5 figures (11 images) from Thisse et al., 2001 [cb948]
Wild-type Stages, Structures:	Cleavage:2-cell (0.75h-1.0h) to Adult (90d-730d, breeding adult)
	adaxial cell blood brain cardiac muscle cell nuclear membrane cell nuclear envelope ceratohyal bone eye fin heart nuclear membrane heart integument intestine kidney liver myotome opercle ovary pectoral fin pectoral fin musculature polster post-vent region adaxial cell retina nuclear membrane retina skeletal muscle nuclear membrane skeletal muscle somite testis whole organism
High Throughput Expression:	GEO (1) , Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
hsi9	Complex	Unknown	Unknown	CRISPR
la027723Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sa10537	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa13189	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa22872	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
CRISPR1-lmna	hsi9	1
MO1-lmna	N/A	1
MO2-lmna	N/A	1
MO3-lmna	N/A	1
MO4-lmna	N/A	1
MO5-lmna	N/A	1

PHENOTYPE

Data:	6 figures from 2 publications
Observed in:	blood blood circulation brain cellular senescence ceratohyal cartilage fat cell fat cell differentiation heart heart contraction integument Meckel's cartilage mitotic M phase mitotic S phase myotome slow muscle cell palatoquadrate cartilage pericardium pharyngeal arch cartilage regulation of heart rate sinus venosus trunk

DISEASE ASSOCIATED WITH lmna HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant Emery-Dreifuss muscular dystrophy 2	Alliance	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	181350
autosomal recessive Emery-Dreifuss muscular dystrophy 3	Alliance	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516
Charcot-Marie-Tooth disease type 2B1	Alliance	Charcot-Marie-Tooth disease, type 2B1	605588
congenital muscular dystrophy due to LMNA mutation	Alliance	Muscular dystrophy, congenital	613205
dilated cardiomyopathy 1A	Alliance	Cardiomyopathy, dilated, 1A	115200
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Alliance	Malouf syndrome	212112
familial partial lipodystrophy type 2	Alliance	Lipodystrophy, familial partial, type 2	151660
lethal restrictive dermopathy	Alliance	Restrictive dermopathy, lethal	275210
progeria	Alliance	Hutchinson-Gilford progeria	176670
		Heart-hand syndrome, Slovenian type	610140
		Mandibuloacral dysplasia	248370

DISEASE ASSOCIATED WITH lmna VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	heart contraction (more)
Cellular Component	intermediate filament (more)

GO Terms (all 3)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	lmna-202 (1)	4620	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	lmna-002 (1)	688	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
	lmna-003 (1)	412	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab1-lmna	polyclonal	IgY	Chicken	IHC, WB	Abcam plc	2

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM lmna

Construct	Regulatory Regions	Coding Sequences	Species	Tg Lines	Publications
Tg(-1.67lmna:EGFP)	lmna	EGFP	Danio rerio	2	1
Tg(-2.99lmna:EGFP)	lmna	EGFP	Danio rerio	2	2
Tg(tnnt2a:EGFP-lmna)	tnnt2a	EGFP, lmna	Danio rerio	1	1
Tg(tnnt2a:EGFP-lmna_M368K)	tnnt2a	EGFP, lmna	Danio rerio	1	1
Tg(tnnt2a:EGFP-lmna_Q291P)	tnnt2a	EGFP, lmna	Danio rerio	1	1
Tg1(CMV:EGFP-lmna)		EGFP, lmna	Danio rerio	1	3
Tg2(CMV:EGFP-lmna)		EGFP, lmna	Danio rerio	1	3
Tg3(CMV:EGFP-lmna)		EGFP, lmna	Danio rerio	1	3

MARKER RELATIONSHIPS

lmna Contained in:	[BAC] DKEY-181C1 (1) (order this)
lmna Encodes:	[EST] cb948 (1) (order this), fk66d12 (1), wz10 [cDNA] MGC:195196 (1), MGC:195205 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_152971 (1)	2078 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR848742 (1)	177769 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A2R8QPG3 (1)	675 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 29)

ORTHOLOGY for lmna ( Chr: 16 )

CITATIONS (43)

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