Symbol
Name
ID

Cln3
CLN3 lysosomal/endosomal transmembrane protein, battenin
MGI:107537

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Cerebral atrophy

Abnormal cerebellum morphology

Increased extraneuronal autofluorescent lipopigment

Increased neuronal autofluorescent lipopigment

Abnormality of extrapyramidal motor function

Parkinsonism

Myoclonus

Dysarthria

Anxiety

Psychosis

Dementia

Psychomotor deterioration

Intellectual disability

Loss of ambulation

Seizure

Bilateral tonic-clonic seizure

Disease(s) Associated with CLN3

neuronal ceroid lipofuscinosis 3

Mouse Phenotypes

increased susceptibility to pharmacologically induced seizures

increased microglial cell activation

abnormal nervous system morphology

abnormal brain morphology

abnormal brainstem morphology

abnormal basal ganglion morphology

abnormal hippocampus morphology

abnormal dentate gyrus morphology

abnormal hippocampus pyramidal cell morphology

abnormal cerebral cortex morphology

abnormal cerebellar Purkinje cell layer

abnormal postnatal subventricular zone morphology

abnormal astrocyte morphology

astrocytosis

gliosis

decreased retina photoreceptor cell number

abnormal retina ganglion cell morphology

Availability

Mouse Genotype

Cln3^em1Dprc/Cln3^em1Dprc

Cln3^tm1.1Mem/Cln3^tm1.1Mem

Cln3^tm1Blda/Cln3^tm1Blda

Cln3^tm1Mkat/Cln3^tm1Mkat

Cln3^tm1Nbm/Cln3^tm1Nbm

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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