About   Help   FAQ
Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
35 phenotypes from multigenic genotypes
Export: Excel File
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory