Symbol
Name
ID

Hepacam
hepatocyte cell adhesion molecule
MGI:1920177

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Dysphagia

Lower limb spasticity

Upper limb spasticity

Ventriculomegaly

Diffuse swelling of cerebral white matter

Diffuse white matter abnormalities

Cerebral atrophy

Megalencephaly

Cerebellar atrophy

Ataxia

Clumsiness

Absent speech

Delayed speech and language development

Dysarthria

Mental deterioration

Progressive neurologic deterioration

Intellectual disability

Motor delay

Seizure

Disease(s) Associated with HEPACAM

megalencephalic leukoencephalopathy with subcortical cysts 2A

megalencephalic leukoencephalopathy with subcortical cysts 2B

Mouse Phenotypes		cerebral edema	increased brain size	brain vacuoles	abnormal astrocyte morphology	abnormal myelin sheath morphology	abnormal glial cell physiology	abnormal oligodendrocyte physiology
Availability	Mouse Genotype	cerebral edema	increased brain size	brain vacuoles	abnormal astrocyte morphology	abnormal myelin sheath morphology	abnormal glial cell physiology	abnormal oligodendrocyte physiology
	Hepacam^tm1.1Tjj/Hepacam^tm1.1Tjj
	Hepacam^tm1.2Tjj/Hepacam^tm1.2Tjj
	Hepacam^tm1Vlcg/Hepacam^tm1Vlcg
	Hepacam^tm1.1Tjj/Hepacam⁺

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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