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Mammalian Phenotype Ontology Annotations
Query Results - Summary
ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)
44 phenotypes from 4 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
involves: 129S/SvEv * CD-1
abnormal cerebellar Purkinje cell layer J:79615
abnormal dentate gyrus morphology J:79615
abnormal gait J:79615
abnormal hepatocyte morphology J:79615
abnormal hippocampus pyramidal cell morphology J:79615
abnormal nervous system morphology J:79615
abnormal postnatal subventricular zone morphology J:79615
abnormal retinal ganglion cell morphology J:79615
abnormal retinal neuronal layer morphology J:79615
normal behavior/neurological phenotype J:79615
decreased retinal photoreceptor cell number J:79615
gliosis J:79615
limb grasping J:79615
premature death J:79615
retinal degeneration J:79615
short stride length J:79615
abnormal brain morphology J:125194
abnormal kidney morphology J:160849
abnormal locomotor activation J:125194
abnormal lysosome morphology J:125194
decreased urine osmolality J:160849
decreased urine potassium level J:160849
impaired coordination J:125194
increased blood osmolality J:160849
increased circulating potassium level J:160849
increased susceptibility to pharmacologically induced seizures J:125194
limb grasping J:125194
polydipsia J:160849
polyuria J:160849
normal renal/urinary system phenotype J:160849
tremors J:125194
involves: 129X1/SvJ * C57BL/6J
abnormal cerebral cortex morphology J:57155
abnormal fertility/fecundity J:57155
abnormal liver morphology J:57155
abnormal lysosome morphology J:57155
abnormal retina morphology J:109790
abnormal retinal ganglion layer morphology J:109790
abnormal retinal inner nuclear layer morphology J:109790
involves: 129S6/SvEvTac * C57BL/6J
abnormal cell adhesion J:233445
abnormal dendritic cell physiology J:233445
abnormal macrophage physiology J:233445
abnormal professional antigen presenting cell morphology J:233445
decreased macrophage cytokine production J:233445
involves: 129S6/SvEvTac * NIH Black Swiss
abnormal basal ganglion morphology J:58230
abnormal brain morphology J:58230
abnormal brainstem morphology J:58230
abnormal cerebral cortex morphology J:58230
abnormal hippocampus morphology J:58230
abnormal lysosome morphology J:58230

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory