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Symbol
Name
ID
Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Dysphagia
Spasticity
Neurofibrillary tangles
Neuronal loss in central nervous system
Ataxia
Dementia
Intellectual disability
Dysarthria
Loss of speech
Dystonia
Psychosis
Cataplexy
Global developmental delay
Seizures
Disease(s) Associated with NPC1
Niemann-Pick disease type C1

Mouse Phenotypes
nervous system phenotype
abnormal olfactory sensory neuron morphology
abnormal adenohypophysis morphology
decreased lactotroph cell number
adenohypophysis hypoplasia
microgliosis
abnormal microglial cell physiology
abnormal microglial cell activation
increased microglial cell activation
decreased brain cholesterol level
increased brain cholesterol level
decreased brain weight
decreased brain size
decreased corpus callosum size
abnormal pons morphology
abnormal hippocampus CA3 region morphology
abnormal cerebral cortex morphology
abnormal neocortex morphology
abnormal olfactory bulb morphology
abnormal Purkinje cell morphology
Purkinje cell degeneration
abnormal Purkinje cell dendrite morphology
decreased Purkinje cell number
abnormal cerebellum anterior vermis morphology
abnormal cerebellum posterior vermis morphology
small cerebellum
abnormal CNS glial cell morphology
astrocytosis
abnormal neuron morphology
abnormal axon morphology
abnormal trigeminal ganglion morphology
abnormal olfactory nerve morphology
neurodegeneration
axonal spheroids
abnormal astrocyte physiology
abnormal myelination
demyelination
decreased prepulse inhibition
Availability Mouse Genotype
Npc1m1N/Npc1m1N * !
Npc1nmf164/Npc1nmf164
Npc1spm/Npc1spm
Npc1tm1.1Dso/Npc1tm1.1Dso
Npc1tm1Mbjg/Npc1tm1Mbjg
Npc1tm1Tacf/Npc1tm1Tacf
Npc1m1N/Npc1tm1.2Apl
Npc1tm1.1Dso/Npc1+
Npc1m1N/Npc1tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0  (conditional)
Npc1m1N/Npc1tm1.1Apl
Tg(Syn1-cre)671Jxm/0  (conditional)
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0  (conditional)
*

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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory