167 phenotypes from 10 alleles in 22 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Npc1m1N/Npc1m1N B6.C-Npc1m1N	abnormal ceramide level	J:221855
	abnormal lipid homeostasis	J:221855
	abnormal lipid level	J:221855
	abnormal sphingomyelin level	J:221855
	astrocytosis	J:157113
	foam cell reticulosis	J:157113
	increased cholesterol level	J:157113
	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 ganglioside 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 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 lipid level	J:179744
	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 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 lipid level	J:204311
	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 cholesterol level	J:104996, J:130969, J:204311
	increased circulating cholesterol level	J:18511
	increased circulating follicle stimulating hormone level	J:91430
	increased circulating luteinizing hormone level	J:91430
increased liver weight	J:76733
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	abnormal microglial cell physiology	J:144240
	abnormal phospholipid level	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 ceramide level	J:221855
	abnormal cholesterol homeostasis	J:221855
	abnormal ganglioside 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 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 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