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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:88388455-88413842 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 38.84 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    624 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96794
 protein coding gene Chr3:88387454-88417263 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027398
 protein coding gene Chr3:88645368-88676758 (-)
A/J MGP_AJ_G0027362
 protein coding gene Chr3:85654395-85684009 (-)
AKR/J MGP_AKRJ_G0027326
 protein coding gene Chr3:87769081-87798839 (-)
BALB/cJ MGP_BALBcJ_G0027371
 protein coding gene Chr3:85739451-85770175 (-)
C3H/HeJ MGP_C3HHeJ_G0027113
 protein coding gene Chr3:88025475-88054907 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027817
 protein coding gene Chr3:91942922-91977310 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025169
 protein coding gene Chr3:81253826-81284400 (-)
CAST/EiJ MGP_CASTEiJ_G0026559
 protein coding gene Chr3:88259845-88293251 (-)
CBA/J MGP_CBAJ_G0027087
 protein coding gene Chr3:95102129-95140052 (-)
DBA/2J MGP_DBA2J_G0027225
 protein coding gene Chr3:85135748-85169526 (-)
FVB/NJ MGP_FVBNJ_G0027193
 protein coding gene Chr3:83407268-83437510 (-)
LP/J MGP_LPJ_G0027334
 protein coding gene Chr3:89655351-89687336 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027213
 protein coding gene Chr3:101321696-101352537 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027876
 protein coding gene Chr3:87512193-87544637 (-)
PWK/PhJ MGP_PWKPhJ_G0026293
 protein coding gene Chr3:84913980-84945922 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026112
 protein coding gene Chr3:86698026-86730203 (-)
WSB/EiJ MGP_WSBEiJ_G0026641
 protein coding gene Chr3:87868950-87901274 (-)



Homology
more
  • Human Ortholog
    LMNA, lamin A/C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LMNA, lamin A/C
  • 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; chr1:156082572-156140081 (+)  GRCh38
Human Diseases
more
  • Diseases
    7 with Lmna mouse models; 20 with human LMNA associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 4 models
IDs
 View 2 models
IDs
 View 14 models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
 View 2 "NOT" models
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    17 with disease annotations
  • References
    26 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    288 phenotypes from 30 alleles in 25 genetic backgrounds
    28 phenotypes from multigenic genotypes
    17 images
    197 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. Heterozygosity for an atypical progeria syndrome (APS) associated mutation leads to changes in fat distribution, and diet-induced weight gain, insulin resistance, glucose intolerance and hypercholesteremia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    70
  • GO References
    32
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    915
  • Tissues
    107
  • cDNA Data
    21
  • Literature Summary
    46
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16905 NCBI Gene Model | MGI Sequence Detail 25388 C57BL/6J ±  kb
    transcript NM_001002011 RefSeq | MGI Sequence Detail 3189 ZRU/MplStud  
    polypeptide P48678 UniProt | EBI | MGI Sequence Detail 665 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 7
      cDNA 24

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-11818, MGI:2156104
    References
    more
    • Summaries
      All 340
      Developmental Gene Expression 46
      Diseases 26
      Gene Ontology 32
      Phenotypes 197
    • Earliest
      J:289360 Houliston E, et al., Expression of nuclear lamins during mouse preimplantation development. Development. 1988 Feb;102(2):271-8
    • Latest
      J:354633 En A, et al., Pervasive nuclear envelope ruptures precede ECM signaling and disease onset without activating cGAS-STING in Lamin-cardiomyopathy mice. Cell Rep. 2024 Jun 25;43(6):114284
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory