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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
34 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
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 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
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
abnormal phospholipid 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
demyelination J:188345
hypoactivity 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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory