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.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes	Fetal ascites	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

increased lung weight

enlarged liver

increased liver weight

enlarged spleen

Availability

Mouse Genotype

Npc1^m1N/Npc1^m1N

Npc1^nmf164/Npc1^nmf164

Npc1^spm/Npc1^spm

Npc1^tm1.1Dso/Npc1^tm1.1Dso

Npc1^tm1.2Apl/Npc1^tm1.2Apl

Npc1^tm1Mbjg/Npc1^tm1Mbjg

Npc1^tm1Tacf/Npc1^tm1Tacf

Npc1^m1N/Npc1^tm1.2Apl

Npc1^tm1Tacf/Npc1^tm2Tacf

Npc1^m1N/Npc1^tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0 (conditional)

Npc1^m1N/Npc1^tm1.1Apl
Tg(Syn1-cre)671Jxm/0 (conditional)

Npc1^tm1.1Apl/Npc1^tm1.2Apl
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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23