Symbol
Name
ID

Lmna
lamin A
MGI:96794

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Intracranial hemorrhage

Abnormal cerebral vascular morphology

Stroke

Transient ischemic attack

Decreased number of peripheral myelinated nerve fibers

Decreased number of large peripheral myelinated nerve fibers

Decreased number of small peripheral myelinated nerve fibers

Onion bulb formation

Enlarged peripheral nerve

Axonal degeneration

Axonal degeneration/regeneration

Axonal loss

Peripheral axonal atrophy

Motor axonal neuropathy

Sensory axonal neuropathy

Meningioma

Vocal cord paralysis

Cranial nerve paralysis

Decreased motor nerve conduction velocity

Decreased amplitude of sensory action potentials

High pitched voice

Intellectual disability

Reduced tendon reflexes

Areflexia

Hyporeflexia

Gait disturbance

Inability to walk

Loss of ambulation

Shuffling gait

Steppage gait

Tip-toe gait

Waddling gait

Global developmental delay

Motor delay

Delayed ability to roll over

Delayed ability to walk

Distal sensory impairment

Disease(s) Associated with LMNA

autosomal recessive Emery-Dreifuss muscular dystrophy 3

Charcot-Marie-Tooth disease type 2B1

congenital muscular dystrophy due to LMNA mutation

dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Emery-Dreifuss muscular dystrophy

familial partial lipodystrophy type 2

progeria

Werner syndrome

Mouse Phenotypes		nervous system phenotype	abnormal enteric neuron morphology	abnormal cholinergic neuron morphology	abnormal axon morphology	abnormal sciatic nerve morphology	abnormal myelination
Availability	Mouse Genotype	nervous system phenotype	abnormal enteric neuron morphology	abnormal cholinergic neuron morphology	abnormal axon morphology	abnormal sciatic nerve morphology	abnormal myelination
	Lmna^tm1.1Vde/Lmna^tm1.1Vde	*
	Lmna^tm1Stw/Lmna^tm1Stw
	Lmna^tm9Lgf/Lmna^tm9Lgf	*
	Lmna^tm10Lgf/Lmna^tm10Lgf	*
	Lmna^tm11Lgf/Lmna^tm11Lgf	*
	Lmna^tm11Lgf/Lmna⁺	*

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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