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Symbol
Name
ID

Cln8
CLN8 transmembrane ER and ERGIC protein
MGI:1349447

Phenotype annotations related to nervous system

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Dysphagia

Abnormality of pattern visual evoked potentials

Spastic tetraplegia

Frequent falls

Hyperintensity of cerebral white matter on MRI

Cerebral atrophy

T2 hypointense thalamus

Cerebellar atrophy

Increased neuronal autofluorescent lipopigment

Ataxia

Gait ataxia

Clumsiness

Myoclonus

EEG abnormality

EEG with abnormally slow frequencies

EEG with generalized epileptiform discharges

Abnormality of speech or vocalization

Delayed speech and language development

Loss of speech

Irritability

Atypical behavior

Autistic behavior

Restlessness

Cognitive impairment

Mental deterioration

Dementia

Motor deterioration

Intellectual disability

Inability to walk

Loss of ambulation

Unsteady gait

Developmental regression

Motor regression

Global developmental delay

Seizure

Bilateral tonic-clonic seizure

Focal impaired awareness seizure

Generalized myoclonic seizure

Disease(s) Associated with CLN8

neuronal ceroid lipofuscinosis 8

neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Mouse Phenotypes

seizures

abnormal nervous system morphology

gliosis

abnormal motor neuron morphology

motor neuron degeneration

abnormal retina rod cell inner segment morphology

short photoreceptor inner segment

short photoreceptor outer segment

abnormal retina rod cell outer segment morphology

abnormal cranial nerve morphology

abnormal hypoglossal nerve morphology

abnormal vagus nerve morphology

abnormal spinal cord ventral horn morphology

axon degeneration

abnormal myelination

Availability

Mouse Genotype

Cln8^mnd/Cln8^mnd

!

!

Cln8^mnd/Cln8⁺

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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