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

Mouse Phenotypes

nervous system phenotype

abnormal olfactory sensory neuron morphology

abnormal adenohypophysis morphology

decreased lactotroph cell number

adenohypophysis hypoplasia

microgliosis

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 axon morphology

abnormal Purkinje cell focal axonal swelling

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

Npc1^m1N/Npc1^m1N

Npc1^nmf164/Npc1^nmf164

Npc1^spm/Npc1^spm

Npc1^tm1.1Dso/Npc1^tm1.1Dso

Npc1^tm1Mbjg/Npc1^tm1Mbjg

Npc1^tm1Tacf/Npc1^tm1Tacf

Npc1^m1N/Npc1^tm1.2Apl

Npc1^tm1.1Dso/Npc1⁺

Npc1^m1N/Npc1^tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0 (conditional)

Npc1^m1N/Npc1^tm1.1Apl
Tg(Syn1-cre)671Jxm/0 (conditional)

Npc1^tm1.1Apl/Npc1^tm1.2Apl
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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