Lmna Gene Summary [Mouse]
This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
Details
| Type | Retained Intron |
| Official Symbol | Lmna |
| Official Name | lamin A [Source:MGI Symbol;Acc:MGI:96794] |
| Ensembl ID | ENSMUSG00000028063 |
| Bio databases IDs | |
| Aliases | lamin A |
| Synonyms | CDCD1, CDDC, CMD1A, CMT2B1, Dhe, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, Lamin A, LAMIN A/C, LAMININ A/C, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, Prelamin-A/C, PRO1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Lmna often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Crescentin protein
- Sumoylation motif
- Tropomyosin like
- coiled-coil domain
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- identical protein binding
- head domain
- protein phosphatase 1 binding
- CAAX box
- Lamin Tail Domain
- tail domain
- Intermediate filament protein
- structural molecule
- rod domain
- zinc metalloprotease Ste24 cleavage site
- Apolipoprotein A1/A4/E domain
Pathways
Biological processes and signaling networks where the Lmna gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- cancer
- neoplasia
- Charcot-Marie-Tooth disease type 2
- autosomal dominant Emery-Dreifuss muscular dystrophy type 2
- spindle cell neoplasm
- LMNA-related congenital muscular dystrophy
- cardiomyopathy
- epithelial cancer
- primary dilated cardiomyopathy
phenotypes
- cornea ulcer
- increased heart weight
- preweaning lethality complete penetrance
- short tibia
- abnormal DNA replication
- abnormal aorta smooth muscle morphology
- abnormal aorta tunica adventitia morphology
- abnormal auditory bulla morphology
- abnormal auditory tube morphology
- abnormal axial skeleton morphology
- abnormal axon morphology
- abnormal behavior
- abnormal blood homeostasis
- abnormal bone mineralization
- abnormal bone structure
- abnormal cell cycle
- abnormal cell differentiation
- abnormal cell nucleus morphology
- abnormal cell physiology
- abnormal cholinergic neuron morphology
- abnormal chromosomal synapsis
- abnormal coat/hair pigmentation
- abnormal colon morphology
- abnormal coronal suture morphology
- abnormal cranial suture morphology
- abnormal cranium morphology
- abnormal cranium size
- abnormal diaphragm morphology
- abnormal distortion product otoacoustic emission
- abnormal double-strand DNA break repair
- abnormal ear development
- abnormal ear morphology
- abnormal ear physiology
- abnormal enteric neuron morphology
- abnormal epidermal layer morphology
- abnormal epidermal melanocyte morphology
- abnormal epidermis stratum basale morphology
- abnormal epidermis stratum granulosum morphology
- abnormal esophageal smooth muscle morphology
- abnormal esophageal squamous epithelium morphology
- abnormal fat cell differentiation
- abnormal female meiosis
- abnormal frontonasal suture morphology
- abnormal gait
- abnormal gastrocnemius morphology
- abnormal hair cycle anagen phase
- abnormal hair follicle morphology
- abnormal hard palate morphology
- abnormal heart development
- abnormal heart echocardiography feature
- abnormal heart left ventricle morphology
- abnormal heart morphology
- abnormal hypaxial muscle morphology
- abnormal impulse conducting system conduction
- abnormal incisor morphology
- abnormal interstitial cell of Cajal morphology
- abnormal keratinocyte morphology
- abnormal lambdoid suture morphology
- abnormal meiosis
- abnormal middle ear epithelium morphology
- abnormal middle ear morphology
- abnormal mitochondrial ATP synthesis coupled electron transport
- abnormal mitosis
- abnormal mitotic spindle assembly checkpoint
- abnormal muscle development
- abnormal myelination
- abnormal myocardial fiber morphology
- abnormal nasopharynx morphology
- abnormal neurocranium morphology
- abnormal nuclear lamina morphology
- abnormal peritoneal macrophage morphology
- abnormal reproductive system morphology
- abnormal rib morphology
- abnormal sagittal suture morphology
- abnormal sarcomere morphology
- abnormal scapula morphology
- abnormal sciatic nerve morphology
- abnormal skeleton morphology
- abnormal skin morphology
- abnormal soleus morphology
- abnormal suckling behavior
- abnormal tail morphology
- abnormal tibialis anterior morphology
- abnormal tongue morphology
- abnormal trabecular bone morphology
- abnormal tympanic membrane morphology
- abnormal urine homeostasis
- abnormal vascular smooth muscle physiology
- abnormal vasodilation
- abnormal zygomatic arch morphology
- absent subcutaneous adipose tissue
- alopecia
- aneuploidy
- arrest of male meiosis
- azoospermia
- bradykinesia
- calcified aorta
- calcified aortic arch
- calcified thoracic aorta
- cardiac fibrosis
- cardiac hypertrophy
- cardiac interstitial fibrosis
- cardiac muscle degeneration
- centrally nucleated skeletal muscle fibers
- congestive heart failure
- decreased abdominal adipose tissue amount
- decreased body height
- decreased body size
- decreased body weight
- decreased bone mineral content
- decreased bone mineral density
- decreased bone mineralization
- decreased bone trabecula number
- decreased bone volume
- decreased cardiac muscle contractility
- decreased circulating carnitine level
- decreased circulating glucose level
- decreased circulating insulin level
- decreased circulating lactate level
- decreased circulating leptin level
- decreased circulating triglyceride level
- decreased compact bone thickness
- decreased core body temperature
- decreased cranium height
- decreased cranium width
- decreased eccrine gland number
- decreased fibroblast proliferation
- decreased grip strength
- decreased hair follicle number
- decreased heart left ventricle weight
- decreased heart rate
- decreased heart weight
- decreased liver glycogen level
- decreased myocardial fiber number
- decreased percent body fat/body weight
- decreased quadriceps weight
- decreased sebaceous gland number
- decreased skeletal muscle fiber diameter
- decreased skeletal muscle fiber size
- decreased subcutaneous adipose tissue amount
- decreased survivor rate
- decreased total body fat amount
- decreased ventricle muscle contractility
- decreased white adipose tissue amount
- dilated cardiomyopathy
- dilated esophagus
- dilated heart atrium
- dilated heart left ventricle
- dilated heart right ventricle
- disheveled coat
- distended cecum
- dystrophic muscle
- enlarged heart
- enlarged heart atrium
- epidermal hyperplasia
- esophageal achalasia
- exophthalmos
- flaky skin
- hunched posture
- hyperkeratosis
- hypoactivity
- hypoglycemia
- impaired coordination
- impaired hearing
- increased aorta wall thickness
- increased circulating adiponectin level
- increased circulating alkaline phosphatase level
- increased circulating creatine kinase level
- increased circulating growth hormone level
- increased circulating insulin level
- increased circulating ketone body level
- increased circulating phosphate level
- increased middle ear goblet cell number
- increased or absent threshold for auditory brainstem response
- increased susceptibility to otitis media
- increased triglyceride level
- infertility
- insulin resistance
- kyphoscoliosis
- kyphosis
- male infertility
- malocclusion
- mandible hypoplasia
- meteorism
- micrognathia
- muscle degeneration
- muscle weakness
- muscular atrophy
- myocardial fiber degeneration
- myocardium necrosis
- no abnormal phenotype detected
- ocular hypotelorism
- orthokeratosis
- osteoporosis
- poor grooming
- postnatal growth retardation
- postnatal lethality complete penetrance
- premature aging
- premature death
- progressive muscle weakness
- prolonged P wave
- prolonged PR interval
- prolonged QRS complex duration
- prolonged RR interval
- prominent ears
- pulmonary edema
- pulmonary hypertension
- reduced female fertility
- rib fractures
- rough coat
- sebaceous gland hypoplasia
- shallow orbits
- short ears
- short maxilla
- short snout
- short upper incisors
- sinoatrial block
- skeletal muscle degeneration
- skeletal muscle fibrosis
- slow postnatal weight gain
- small cranium
- small gonad
- small heart
- small lower incisors
- small myocardial fiber
- small seminiferous tubules
- small spleen
- small testis
- small thymus
- small xiphoid process
- sparse hair
- tachypnea
- thick epidermis
- thin dermal layer
- thin myocardium
- thymus atrophy
- tympanic membrane retraction
- vascular smooth muscle hypoplasia
- weight loss
- wide cranial sutures
role in cell
- cell death
- proliferation
- differentiation
- quantity
- expression in
- apoptosis
- growth
- commitment
- survival
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- nuclear membrane fraction
- insoluble fractions
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Cytoplasm
- cell surface
- intranuclear region
- perinuclear region
- intermediate filaments
- cytosol
- nuclear foci
- nuclear pores
- inner nuclear membrane
- nucleoplasm
- nucleoli
- nuclear rim
- nuclear envelope
- nuclear scaffolds
- nuclear speckles
- nuclear matrix
- nuclear lamina
- chromatin
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lmna gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of release of cytochrome c from mitochondria
- negative regulation of cell proliferation
- nuclear migration
- cellular senescence
- nuclear pore localization
- nuclear envelope organization
- regulation of protein stability
- negative regulation of mesenchymal cell proliferation
- protein import into nucleus
- positive regulation of gene expression
- heterochromatin assembly
- negative regulation of extrinsic apoptotic signaling pathway
- ventricular cardiac muscle cell development
- cellular response to hypoxia
- regulation of cell migration
- protein localization to nucleus
- regulation of protein localization to nucleus
- establishment or maintenance of microtubule cytoskeleton polarity
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nucleus
- nuclear membrane
- site of double-strand break
- lamin filament
- nuclear speck
- cytosol
- nuclear matrix
- nuclear lamina
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of cytoskeleton