cln3 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (144)

Interactants (55)

XB-GENEPAGE-997313

Gene Symbol: cln3 Gene Name: ceroid-lipofuscinosis, neuronal 3

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (27 sources): Abnormal cerebellum morphology, Abnormality of extrapyramidal motor function, Anxiety, Blindness, Cataract, Cerebral atrophy, Concentric hypertrophic cardiomyopathy, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Dementia, Dysarthria, Fingerprint intracellular accumulation of autofluorescent lipopigment storage material, Glaucoma, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigment, Intellectual disability, Loss of ambulation, Macular degeneration, Myoclonus, Optic atrophy, Parkinsonism, Progressive visual loss, Psychomotor deterioration, Psychosis, Rod-cone dystrophy, Seizure, Undetectable electroretinogram, Vacuolated lymphocytes [+]
Mouse (31 sources): abnormal astrocyte morphology, abnormal basal ganglion morphology, abnormal cell adhesion, abnormal cerebellar Purkinje cell layer, abnormal cerebral cortex morphology, abnormal dendritic cell physiology, abnormal dentate gyrus morphology, abnormal fertility/fecundity, abnormal hepatocyte morphology, abnormal hippocampus pyramidal cell morphology, abnormal kidney morphology, abnormal locomotor activation, abnormal lysosome morphology, abnormal macrophage physiology, abnormal postnatal subventricular zone morphology, abnormal professional antigen presenting cell morphology, abnormal retina ganglion cell morphology, abnormal retina ganglion layer morphology, abnormal retina inner nuclear layer morphology, abnormal retina neuronal layer morphology, behavior/neurological phenotype, decreased macrophage cytokine production, decreased retina photoreceptor cell number, decreased urine osmolality, increased blood osmolality, increased microglial cell activation, increased susceptibility to pharmacologically induced seizures, limb grasping, premature death, renal/urinary system phenotype, short stride length [+]
View all ortholog results at Monarch