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Lmna Gene Detail
Summary
  • Symbol
    Lmna
  • Name
    lamin A
  • Synonyms
    Dhe, lamin A/C
  • Feature Type
    protein coding gene
  • IDs
    MGI:96794
    NCBI Gene: 16905
  • Gene Overview
    MyGene.info: LMNA
Location & Maps
more
  • Sequence Map
    Chr3:88480147-88509956 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29810 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 38.84 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    LMNA, lamin A/C
  • Vertebrate Orthologs
    9
  • Human Ortholog
    LMNA, lamin A/C
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1
  • Links
    NCBI Gene ID: 4000
    neXtProt AC: NX_P02545

  • Chr Location
    1q22; chr1:156082546-156140089 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 41321
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: LMNA
  • Gene Tree
Human Diseases
more
  • Diseases
    7 with Lmna mouse models; 12 with human LMNA associations

Human Disease Mouse Models
       Cardiomyopathy, Dilated, 1A; CMD1A   OMIM: 115200 View 2 models
Charcot-Marie-Tooth Disease, Axonal, Type 2B1; CMT2B1   OMIM: 605588 View 1 model
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2   OMIM: 181350 View 2 models
Hutchinson-Gilford Progeria Syndrome; HGPS   OMIM: 176670 View 7 models
Lipodystrophy, Familial Partial, Type 2; FPLD2   OMIM: 151660 View 2 models
Muscular Dystrophy, Congenital, Lmna-Related   OMIM: 613205 View 1 model
       Achalasia, Familial Esophageal   OMIM: 200400 View 2 models
       Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism   OMIM: 212112
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive; EDMD3   OMIM: 616516
Heart-Hand Syndrome, Slovenian Type   OMIM: 610140
Mandibuloacral Dysplasia with Type A Lipodystrophy; MADA   OMIM: 248370
Muscular Dystrophy, Limb-Girdle, Type 1B; LGMD1B   OMIM: 159001
Restrictive Dermopathy, Lethal   OMIM: 275210
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    16 with disease annotations
  • References
    28 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    220 phenotypes from 25 alleles in 20 genetic backgrounds
    62 phenotypes from multigenic genotypes
    17 images
    102 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    154
  • Chemically induced (other)
    1
  • Gene trapped
    121
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    25
  • Transgenic
    5
  • Genomic Mutations
    2 involving Lmna
  • Incidental Mutations
Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, hyperkeratosis, and die by 8 weeks of age.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030317 VEGA Gene Model | MGI Sequence Detail 29810 C57BL/6J ±  kb
transcript OTTMUST00000075092 VEGA | MGI Sequence Detail 3156 Not Applicable  
polypeptide OTTMUSP00000039297 VEGA | MGI Sequence Detail 665 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    70 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    Genomic 7
    cDNA 23

    Microarray probesets 8
Other
Accession IDs
less
MGD-MRK-11818, MGI:2156104
References
more
  • Summaries
    All 173
    Developmental Gene Expression 18
    Diseases 28
    Gene Ontology 21
    Phenotypes 102
  • Earliest
    J:16565 Riedel W, et al., Nucleotide sequence of the full-length mouse lamin C cDNA and its deduced amino-acid sequence. Biochim Biophys Acta. 1989 Jun 1;1008(1):119-22
  • Latest
    J:228307 Zhou T, et al., Palmitoyl acyltransferase Aph2 in cardiac function and the development of cardiomyopathy. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):15666-71

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory