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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
168 phenotypes from 10 alleles in 22 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Npc1m1N/Npc1m1N
B6.C-Npc1m1N 		abnormal lipid homeostasis J:221855
abnormal lipid level J:221855
abnormal sphingomyelin level J:221855
astrocytosis J:157113
foam cell reticulosis J:157113
increased brain cholesterol level J:157113
increased ceramide level J:221855
increased liver cholesterol level J:221855
microgliosis J:157113
Purkinje cell degeneration J:157113
Npc1m1N/Npc1m1N
BALB/c-Npc1m1N 		abnormal ceramide level J:221855
abnormal hepatocyte morphology J:221855
abnormal lipid homeostasis J:221855
abnormal lipid level J:221855
abnormal macrophage morphology J:221855
abnormal microglial cell activation J:221855
abnormal primary cilium morphology J:242832
abnormal Purkinje cell dendrite morphology J:81305
abnormal Purkinje cell focal axonal swelling J:81305
abnormal Purkinje cell morphology J:221855
abnormal sphingomyelin level J:221855
astrocytosis J:172769, J:221855
decreased brain size J:172769
demyelination J:172769
impaired coordination J:172769
increased brain cholesterol level J:172769, J:221855
increased ganglioside level J:221855
increased liver cholesterol level J:221855
increased macrophage derived foam cell number J:221855
increased microglial cell activation J:221855
premature death J:172769, J:221855
Purkinje cell degeneration J:81305, J:172769, J:221855
weight loss J:172769
Npc1m1N/Npc1m1N
BALB/cNctr-Npc1m1N/J 		abnormal cellular cholesterol metabolism J:149812
abnormal cerebral cortex morphology J:149812
abnormal cornea morphology J:182268
abnormal hippocampus CA3 region morphology J:149812
abnormal lysosome physiology J:209834
abnormal mitochondrial crista morphology J:98011
abnormal mitochondrial matrix morphology J:98011
abnormal mitochondrial morphology J:98011
abnormal mitochondrial physiology J:98011
abnormal mitochondrial shape J:98011
abnormal neocortex morphology J:149812
abnormal olfactory bulb morphology J:209834
abnormal olfactory epithelium morphology J:209834
abnormal olfactory nerve morphology J:209834
abnormal olfactory sensory neuron morphology J:209834
abnormal olfactory system morphology J:209834
abnormal pons morphology J:149812
abnormal trigeminal ganglion morphology J:209834
astrocytosis J:209834
ataxia J:179744
cornea deposits J:182268
decreased body weight J:209834
decreased brain weight J:209834
decreased grip strength J:179744
decreased liver cholesterol level J:179744
decreased prepulse inhibition J:179744
demyelination J:179744
enlarged liver J:179744
enlarged spleen J:179744
impaired coordination J:179744
impaired olfaction J:209834
increased ganglioside level J:179744
increased liver cholesterol level J:179744
increased startle reflex J:179744
lethality, incomplete penetrance J:179744
microgliosis J:209834
nasal inflammation J:209834
normal nervous system phenotype J:149812
neurodegeneration J:209834
premature death J:179744
Purkinje cell degeneration J:149812, J:179744
weight loss J:179744
Npc1m1N/Npc1m1N
involves: 129S1/Sv * BALB/c * C57BL/6 		abnormal lipid homeostasis J:89617
increased liver cholesterol level J:89617
premature death J:89617
Purkinje cell degeneration J:89617
weight loss J:89617
Npc1m1N/Npc1m1N
involves: 129S2/SvPas * BALB/c * C57BL/6 		premature death J:118352
Npc1m1N/Npc1m1N
involves: BALB/c 		abnormal adenohypophysis morphology J:91430
abnormal alveolar lamellar body morphology J:204311
abnormal alveolar macrophage morphology J:204311
abnormal cellular cholesterol metabolism J:104996
abnormal cerebellum anterior vermis morphology J:81305
abnormal cerebellum posterior vermis morphology J:81305
abnormal CNS glial cell morphology J:126474
abnormal female reproductive system morphology J:91430
abnormal Golgi apparatus morphology J:267948
abnormal granulosa cell morphology J:91430
abnormal lung morphology J:204311
abnormal lung vasculature morphology J:204311
abnormal motor capabilities/coordination/movement J:76733
abnormal myelination J:104996
abnormal neuron morphology J:104996
abnormal ovarian follicle morphology J:91430
abnormal ovary morphology J:91430
abnormal phospholipid level J:204311
abnormal Purkinje cell axon morphology J:126474
abnormal respiratory system physiology J:204311
abnormal sperm head morphology J:119302
abnormal sperm physiology J:119302
abnormal surfactant composition J:204311
abnormal tertiary ovarian follicle morphology J:91430
abnormal type II pneumocyte morphology J:204311
absent corpus luteum J:91430
absent estrous cycle J:91430
absent mature ovarian follicles J:91430
absent sperm flagellum J:119302
absent sperm head J:119302
adenohypophysis hypoplasia J:91430
anovulation J:91430
arrest of spermatogenesis J:119302
decreased abdominal fat pad weight J:91430
decreased body size J:91430
decreased body weight J:91430, J:204311
decreased brain cholesterol level J:104996, J:130969
decreased brain weight J:76733, J:130969
decreased circulating prolactin level J:91430
decreased corpus callosum size J:126474
decreased endometrial gland number J:91430
decreased food intake J:76733
decreased lactotroph cell number J:91430
decreased ovary secretion J:91430
decreased ovary weight J:91430
decreased prolactin level J:91430
decreased Purkinje cell number J:81305, J:126474
decreased secondary ovarian follicle number J:91430
decreased superovulation rate J:91430
decreased tertiary ovarian follicle number J:91430
endometrium atrophy J:91430
enlarged alveolar lamellar bodies J:204311
enlarged liver J:91430
enlarged spleen J:76733
female infertility J:91430
hepatic steatosis J:100351
impaired binding of sperm to zona pellucida J:119302
impaired coordination J:130969
impaired fertilization J:119302
increased brain cholesterol level J:104996
increased cholesterol level J:104996, J:130969
increased circulating cholesterol level J:18511
increased circulating follicle stimulating hormone level J:91430
increased circulating luteinizing hormone level J:91430
increased lipid level J:204311
increased liver cholesterol level J:130969
increased liver weight J:76733
increased lung cholesterol level J:130969, J:204311
increased lung weight J:76733, J:204311
infertility J:76395
lipidosis J:18511, J:204311
male infertility J:119302
oligozoospermia J:119302
pale liver J:91430
premature death J:81305, J:130969
pulmonary alveolar proteinosis J:204311
Purkinje cell degeneration J:81305
seminiferous tubule degeneration J:119302
small cerebellum J:130969
small ovary J:91430
teratozoospermia J:119302
thick pulmonary interalveolar septum J:204311
thin endometrium J:91430
thin myometrium J:91430
thin uterus J:91430
uterus atrophy J:91430
weight loss J:76733, J:130969
Npc1m1N/Npc1m1N
involves: BALB/c * C3H/HeJ * C57BL/6J 		abnormal enzyme/coenzyme level J:188345
abnormal object recognition memory J:188345
decreased locomotor activity J:188345
demyelination J:188345
impaired coordination J:188345
increased brain cholesterol level J:188345
microgliosis J:188345
neurodegeneration J:188345
premature death J:188345
Purkinje cell degeneration J:188345
Npc1m1N/Npc1m1N
involves: BALB/c * C57BL/6 * CBA 		increased ganglioside level J:144240
increased microglial cell activation J:144240
premature death J:144240
weight loss J:144240
Npc1m1N/Npc1tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0
B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc 		abnormal axon morphology J:176888
astrocytosis J:176888
axonal spheroids J:176888
demyelination J:176888
impaired balance J:176888
increased brain cholesterol level J:176888
microgliosis J:176888
premature death J:176888
Purkinje cell degeneration J:176888
weight loss J:176888
Npc1m1N/Npc1tm1.1Apl
Tg(GFAP-cre/ERT2)13Kdmc/0
B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(GFAP-cre/ERT2)13Kdmc 		no abnormal phenotype detected J:176888
Npc1m1N/Npc1tm1.1Apl
Tg(Syn1-cre)671Jxm/0
B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm 		abnormal axon morphology J:176888
astrocytosis J:176888
axonal spheroids J:176888
demyelination J:176888
impaired balance J:176888
impaired coordination J:176888
increased brain cholesterol level J:176888
microgliosis J:176888
premature death J:176888
weight loss J:176888
Npc1m1N/Npc1tm1.2Apl
B6.Cg-Npc1m1N/Npc1tm1.2Apl 		astrocytosis J:157113
decreased body size J:157113
foam cell reticulosis J:157113
impaired coordination J:157113
increased cholesterol level J:157113
microgliosis J:157113
premature death J:157113
Purkinje cell degeneration J:157113
weight loss J:157113
Npc1nmf164/Npc1nmf164
C57BL/6J-Npc1nmf164/J 		abnormal astrocyte physiology J:179744
abnormal cellular cholesterol metabolism J:179744
abnormal gait J:87349
abnormal lipid level J:179744
ataxia J:179744
decreased grip strength J:179744
decreased liver cholesterol level J:179744
decreased prepulse inhibition J:179744
enlarged liver J:179744
enlarged spleen J:179744
impaired coordination J:179744
increased brain cholesterol level J:179744
increased liver cholesterol level J:179744
increased macrophage derived foam cell number J:179744
increased microglial cell activation J:179744
increased startle reflex J:179744
lethality, incomplete penetrance J:179744
premature death J:179744
Purkinje cell degeneration J:179744
reduced fertility J:87349
sphingomyelinosis J:179744
weight loss J:179744
Npc1spm/Npc1spm
C57BLKS/J-Npc1spm/J 		abnormal cholesterol level J:7245
abnormal plasma membrane sphingolipid content J:7245
ataxia J:6833
decreased Purkinje cell number J:7245
enlarged liver J:7245
enlarged spleen J:7245
increased liver cholesterol level J:7245, J:102782
increased macrophage derived foam cell number J:7245
increased plasma membrane sphingolipid content J:7245
premature death J:6833
Purkinje cell degeneration J:81305, J:102782
sphingomyelinosis J:7245
tremors J:6833
weight loss J:6833
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0
B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin 		ataxia J:157113
normal growth/size/body region phenotype J:157113
impaired coordination J:157113
increased cholesterol level J:157113
microgliosis J:157113
normal mortality/aging J:157113
normal nervous system phenotype J:157113
Purkinje cell degeneration J:157113
tremors J:157113
Npc1tm1.1Dso/Npc1+
B6.129-Npc1tm1.1Dso 		increased brain cholesterol level J:221855
Npc1tm1.1Dso/Npc1tm1.1Dso
B6.129-Npc1tm1.1Dso 		abnormal cholesterol homeostasis J:221855
abnormal hepatocyte morphology J:221855
abnormal lipid homeostasis J:221855
abnormal macrophage morphology J:221855
abnormal microglial cell activation J:221855
abnormal Purkinje cell dendrite morphology J:221855
abnormal Purkinje cell morphology J:221855
abnormal sphingolipid level J:221855
astrocytosis J:221855
axonal spheroids J:221855
decreased body weight J:221855
impaired coordination J:221855
increased brain cholesterol level J:221855
increased ceramide level J:221855
increased ganglioside level J:221855
increased lipid level J:221855
increased liver cholesterol level J:221855
increased macrophage cell number J:221855
increased macrophage derived foam cell number J:221855
increased microglial cell activation J:221855
microgliosis J:221855
premature death J:221855
Purkinje cell degeneration J:221855
sphingomyelinosis J:221855
tremors J:221855
weight loss J:221855
Npc1tm1.2Apl/Npc1tm1.2Apl
C57BL/6-Npc1tm1.2Apl 		abnormal motor capabilities/coordination/movement J:157113
premature death J:157113
weight loss J:157113
Npc1tm1b(EUCOMM)Hmgu/Npc1+
C57BL/6N-Npc1tm1b(EUCOMM)Hmgu/H 		decreased exploration in new environment J:211773
Npc1tm1b(EUCOMM)Hmgu/Npc1tm1b(EUCOMM)Hmgu
C57BL/6N-Npc1tm1b(EUCOMM)Hmgu/H 		preweaning lethality, incomplete penetrance J:211773
Npc1tm1Mbjg/Npc1tm1Mbjg
involves: 129S6/SvEvTac * C57BL/6J 		abnormal lipid level J:176587
ataxia J:176587
decreased body weight J:176587
decreased Purkinje cell number J:176587
foam cell reticulosis J:176587
increased cholesterol level J:176587
increased liver cholesterol level J:176587
premature death J:176587
tremors J:176587
weight loss J:176587
Npc1tm1Tacf/Npc1tm1Tacf
B6(Cg)-Npc1tm1Tacf 		abnormal gait J:266795
abnormal liver morphology J:266795
abnormal object recognition memory J:266795
abnormal Purkinje cell dendrite morphology J:266795
abnormal Purkinje cell morphology J:266795
abnormal response to novel object J:266795
ataxia J:266795
decreased anxiety-related response J:266795
decreased body weight J:266795
dilated liver sinusoidal space J:266795
hypoalgesia J:266795
impaired coordination J:266795
impaired learning J:266795
increased ceramide level J:266795
increased grip strength J:266795
increased liver cholesterol level J:266795
increased locomotor activity J:266795
premature death J:266795
prenatal lethality, incomplete penetrance J:266795
slow postnatal weight gain J:266795
tremors J:266795
Npc1tm1Tacf/Npc1tm2Tacf
B6(Cg)-Npc1tm1Tacf Npc1tm2Tacf 		abnormal gait J:266795
abnormal pain threshold J:266795
ataxia J:266795
decreased anxiety-related response J:266795
decreased body weight J:266795
impaired coordination J:266795
impaired learning J:266795
increased ceramide level J:266795
increased liver cholesterol level J:266795
increased locomotor activity J:266795
premature death J:266795
prenatal lethality, incomplete penetrance J:266795
slow postnatal weight gain J:266795
tremors J:266795
Npc1tm2Tacf/Npc1tm2Tacf
B6(Cg)-Npc1tm2Tacf 		prenatal lethality, incomplete penetrance J:266795
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory