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Symbol
Name
ID

L1cam
L1 cell adhesion molecule
MGI:96721

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Dandy-Walker malformation

Posterior fossa cyst

Microcephaly

Anorexia

Spasticity

Lower limb spasticity

Spastic paraplegia

Colpocephaly

Aqueductal stenosis

Hydrocephalus

Communicating hydrocephalus

Ventriculomegaly

Abnormal cortical gyration

Lissencephaly

Simplified gyral pattern

Small cerebral cortex

Agenesis of corpus callosum

Absent septum pellucidum

Cerebellar vermis hypoplasia

Holoprosencephaly

Corticospinal tract hypoplasia

Gray matter heterotopia

Hemiplegia/hemiparesis

Paraplegia

EEG abnormality

Increased intracranial pressure

Aphasia

Delayed speech and language development

Delusion

Schizophrenia

Hallucinations

Negativism

Social and occupational deterioration

Intellectual disability

Intellectual disability, severe

Hyperreflexia

Gait disturbance

Shuffling gait

Motor delay

Seizure

Disease(s) Associated with L1CAM

hydrocephalus

MASA syndrome

pancreatic cancer

schizophrenia

Mouse Phenotypes

nervous system phenotype

abnormal axon extension

abnormal axon guidance

abnormal brain morphology

hydrocephaly

abnormal brain ventricle morphology

enlarged brain ventricles

enlarged fourth ventricle

abnormal fourth ventricle morphology

dilated lateral ventricle

abnormal cerebral aqueduct morphology

abnormal hippocampus morphology

thin cerebral cortex

abnormal cerebellum morphology

cerebellum vermis hypoplasia

cerebellum atrophy

abnormal Schwann cell morphology

abnormal sensory neuron innervation pattern

abnormal corticospinal tract morphology

decreased corticospinal tract size

abnormal neuron morphology

abnormal neurite morphology

abnormal axon morphology

abnormal retina ganglion cell morphology

abnormal spinal cord dorsal horn morphology

abnormal somatic nervous system physiology

abnormal CNS synaptic transmission

Availability

Mouse Genotype

L1cam^tm1.1Pfm/L1cam^tm1.1Pfm

*

L1cam^tm1.1Vlem/L1cam^tm1.1Vlem

*

!

L1cam^tm1(tTA)Msch/Y

!

L1cam^tm1.1Pfm/Y

*

L1cam^tm1Mtei/Y

*

!

L1cam^tm1Sor/Y

*

L1cam^tm2.1Vlem/Y

*

L1cam^tm3.1Vlem/Y

*

L1cam^tm4.1Vlem/Y

*

L1cam^tm1Fmo/Y
Tg(Camk2a-cre)1Gsc/0 (conditional)

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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