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Symbol
Name
ID
Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
Phenotype annotations related to growth/size/body
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Splenomegaly
Hepatomegaly
Disease(s) Associated with NPC1
Niemann-Pick disease type C1

Mouse Phenotypes
abnormal olfactory epithelium morphology
abnormal olfactory sensory neuron morphology
growth/size/body region phenotype
decreased body weight
slow postnatal weight gain
weight loss
decreased body size
Availability Mouse Genotype
Npc1m1N/Npc1m1N
Npc1nmf164/Npc1nmf164
Npc1spm/Npc1spm
Npc1tm1.1Dso/Npc1tm1.1Dso
Npc1tm1.2Apl/Npc1tm1.2Apl
Npc1tm1Mbjg/Npc1tm1Mbjg
Npc1tm1Tacf/Npc1tm1Tacf
Npc1m1N/Npc1tm1.2Apl
Npc1tm1Tacf/Npc1tm2Tacf
Npc1m1N/Npc1tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0  (conditional)
Npc1m1N/Npc1tm1.1Apl
Tg(Syn1-cre)671Jxm/0  (conditional)
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0  (conditional)
*

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