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Symbol
Name
ID

Clcn2
chloride channel, voltage-sensitive 2
MGI:105061

Phenotype annotations related to nervous system

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

Human Phenotypes	Polydipsia	Bilateral tonic-clonic seizure on awakening	Generalized non-motor (absence) seizure	Generalized myoclonic seizure
Disease(s) Associated with CLCN2	Polydipsia	Bilateral tonic-clonic seizure on awakening	Generalized non-motor (absence) seizure	Generalized myoclonic seizure
idiopathic generalized epilepsy 11
primary hyperaldosteronism

Mouse Phenotypes

nervous system phenotype

impaired blood-brain barrier function

abnormal microglial cell physiology

abnormal brain morphology

abnormal corpus callosum morphology

abnormal brain internal capsule morphology

abnormal brainstem morphology

abnormal cerebellum morphology

brain vacuoles

abnormal myelin sheath morphology

disorganized photoreceptor inner segment

abnormal photoreceptor outer segment morphology

disorganized photoreceptor outer segment

retina photoreceptor degeneration

abnormal spinal cord morphology

neurodegeneration

axon degeneration

abnormal glial cell physiology

abnormal oligodendrocyte physiology

abnormal nerve conduction

Availability

Mouse Genotype

Clcn2^nmf240/Clcn2^nmf240

Clcn2^nmf289/Clcn2^nmf289

Clcn2^tm1Mlv/Clcn2^tm1Mlv

Clcn2^tm1Tjj/Clcn2^tm1Tjj

*

Clcn2^tm2.1Tjj/Clcn2^tm2.1Tjj

*

Clcn2^em1Uis/Clcn2⁺

*

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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