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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
  • Alliance
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: HomoloGene, HGNC
  • Synonyms
    CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1
  • Links
    NCBI Gene ID: 4000
    neXtProt AC: NX_P02545
    UniProt: P02545

  • Chr Location
    1q22; chr1:156082546-156140089 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 41321
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: LMNA
  • Gene Tree
Human Diseases
more
  • Diseases
    7 with Lmna mouse models; 8 with human LMNA associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 5 models
IDs
View 2 models
IDs
View 8 models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
IDs
View 2 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    18 with disease annotations
  • References
    26 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    247 phenotypes from 26 alleles in 20 genetic backgrounds
    81 phenotypes from multigenic genotypes
    19 images
    116 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.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    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
    less
    • 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 216
      Developmental Gene Expression 22
      Diseases 26
      Gene Ontology 24
      Phenotypes 116
    • 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:252201 Rapisarda V, et al., p63 Transcription Factor Regulates Nuclear Shape and Expression of Nuclear Envelope-Associated Genes in Epidermal Keratinocytes. J Invest Dermatol. 2017 Oct;137(10):2157-2167

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory