Symbol
Name
ID

Cln6
ceroid-lipofuscinosis, neuronal 6
MGI:2159324

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Spasticity

Cerebral atrophy

Leukoencephalopathy

Aplasia/Hypoplasia of the cerebellum

Increased neuronal autofluorescent lipopigment

Ataxia

Clumsiness

Abnormality of extrapyramidal motor function

Myoclonus

Tremor

Abnormal pyramidal sign

Abnormal nervous system electrophysiology

Depression

Auditory hallucination

Visual hallucination

Atypical behavior

Cognitive impairment

Mental deterioration

Dementia

Motor deterioration

Central sleep apnea

Seizure

Bilateral tonic-clonic seizure

Focal-onset seizure

Status epilepticus without prominent motor symptoms

Disease(s) Associated with CLN6

neuronal ceroid lipofuscinosis

neuronal ceroid lipofuscinosis 6A

neuronal ceroid lipofuscinosis 6B

Mouse Phenotypes		seizures	abnormal nervous system morphology	astrocytosis	axon degeneration	abnormal myelination	abnormal neuron physiology	decreased prepulse inhibition
Availability	Mouse Genotype	seizures	abnormal nervous system morphology	astrocytosis	axon degeneration	abnormal myelination	abnormal neuron physiology	decreased prepulse inhibition
	Cln6^nclf/Cln6^nclf
	Cln6^{tm1b(EUCOMM)Hmgu}/Cln6^{tm1b(EUCOMM)Hmgu}

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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