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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
35 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
Abca1tm1Wpfl/Abca1tm1Wpfl
Npc1m1N/Npc1m1N
involves: 129P2/OlaHsd * BALB/c 		decreased brain cholesterol level J:130969
increased cholesterol level J:130969
increased liver cholesterol level J:130969
increased lung cholesterol level J:130969
premature death J:130969
Abcb1atm1Bor/Abcb1atm1Bor
Npc1m1N/Npc1m1N
involves: 129/Ola * BALB/c 		abnormal maternal nurturing J:76395
abnormal motor capabilities/coordination/movement J:76395
increased liver cholesterol level J:76395
normal reproductive system phenotype J:76395
Apoetm1Unc/Apoetm1Unc
Npc1m1N/Npc1m1N
involves: 129P2/OlaHsd * BALB/c 		increased circulating VLDL cholesterol level J:104996
Apptm1Dbo/Apptm1Dbo
Npc1m1N/Npc1m1N
C.Cg-Apptm1Dbo Npc1m1N 		astrocytosis J:172769
decreased brain size J:172769
demyelination J:172769
impaired coordination J:172769
increased brain cholesterol level J:172769
premature death J:172769
Purkinje cell degeneration J:172769
weight loss J:172769
Il6tm1Kopf/Il6tm1Kopf
Npc1m1N/Npc1m1N
involves: 129S2/SvPas * BALB/c * C57BL/6 		abnormal glial cell physiology J:118352
Ldlrtm1Her/Ldlrtm1Her
Npc1m1N/Npc1m1N
involves: 129S7/SvEvBrd * BALB/c 		abnormal CNS glial cell morphology J:126474
abnormal Purkinje cell axon morphology J:126474
decreased brain cholesterol level J:130969
decreased corpus callosum size J:126474
decreased Purkinje cell number J:126474
increased cholesterol level J:130969
increased circulating LDL cholesterol level J:104996, J:130969
increased liver cholesterol level J:130969
increased lung cholesterol level J:130969
premature death J:130969
Ldlrtm1Her/Ldlrtm1Her
Npc1m1N/Npc1m1N
involves: 129S7/SvEvBrd * BALB/c * C57BL/6 		increased liver weight J:100351
premature death J:100351
Npc1m1N/Npc1m1N
Npc2tm1Plob/Npc2tm1Plob
involves: 129S1/Sv * BALB/c * C57BL/6 		abnormal lipid homeostasis J:89617
decreased Purkinje cell number J:89617
increased liver cholesterol level J:89617
premature death J:89617
Purkinje cell degeneration J:89617
weight loss J:89617
Npc1m1N/Npc1m1N
Nr1h2tm1Djm/Nr1h2tm1Djm
involves: 129S6/SvEvTac * BALB/c 		premature death J:130969
Npc1m1N/Npc1m1N
Tg(CAG-RAB9A)500Repa/0
involves: BALB/c * C57BL/6 * CBA 		decreased ganglioside level J:144240
decreased susceptibility to weight loss J:144240
premature death J:144240
Npc1m1N/Npc1m1N
Tg(PRNP-APPSweInd)8Dwst/0
involves: BALB/c * C3H/HeJ * C57BL/6J 		abnormal enzyme/coenzyme activity J:188345
abnormal enzyme/coenzyme level J:188345
abnormal object recognition memory J:188345
astrocytosis J:188345
decreased body weight 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
weight loss J:188345
Npc1m1N/Npc1m1N
Tlr4tm1Aki/Tlr4tm1Aki
involves: 129P2/OlaHsd * BALB/c 		abnormal cytokine secretion J:118352
normal nervous system phenotype J:118352
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory