Genes Phenotypes

Gene: Npc1

Name
NPC intracellular cholesterol transporter 1
MGI ID
MGI:1097712
Synonyms
D18Ertd723e D18Ertd139e nmf164 lcsd C85354 A430089E03Rik
Viability
N/A
View
3D Imaging
Other links
MGI   Ensembl  
Significant phenotypes (2) Measurements chart (518) All data table (1166)
Expression & images (67) Disease models (0) Order (3)
Significant
Not Significant
Not tested
View body weight measurements
Phenotype System Allele Zyg Sex Life Stage P Value
hypoactivity Npc1tm1b(EUCOMM)Hmgu HET postnatal 3.39×10-08
preweaning lethality, incomplete penetrance Npc1tm1b(EUCOMM)Hmgu HOM n/a 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

 Expression

IMPC lacZ Expression Data

 Expression  No Expression  Ambiguous  No Tissue Available
Anatomy #HET Specimens HOM Images? WT Expr Mutant Expr Images
Adrenal gland 2 No  (2/584) N/A
Aorta 2 No N/A
Bone 2 No N/A
Brain 2 No N/A
Brainstem 2 No N/A
Brown adipose tissue 2 No N/A
Cartilage tissue 2 No N/A
Cerebellum 2 No N/A
Cerebral cortex 2 No N/A
Esophagus 2 No  (7/415) N/A
Eye 2 No N/A
Gall bladder 2 No N/A
Heart 2 No N/A
Hippocampus 2 No N/A
Hypothalamus 2 No N/A
Kidney 2 No  (18/584) N/A
Large intestine 2 No  (10/584) N/A
Liver 2 No N/A
Lower urinary tract 2 No N/A
Lung 2 No N/A
Lymph node 2 No N/A
Mammary gland 2 No N/A
Olfactory lobe 2 No N/A
Oral epithelium 2 No N/A
Ovary 2 No  (1/584) N/A
Oviduct 2 No N/A
Pancreas 2 No  (5/584) N/A
Parathyroid gland 2 No N/A
Peripheral nervous system 2 No N/A
Peyer's patch 2 No N/A
Pituitary gland 2 No N/A
Prostate gland 2 No  (12/584) N/A
Skeletal muscle 2 No N/A
Skin 2 No  (2/2)  Wholemount images
Small intestine 2 No  (9/584) N/A
Spinal cord 2 No N/A
Spleen 2 No  (2/584) N/A
Stomach 2 No  (12/584)  (1/2)  Wholemount images
Striatum 2 No N/A
Testis 2 No  (2/584)  (1/2)  Wholemount images
Thymus 2 No N/A
Thyroid gland 2 No  (15/584) N/A
Trachea 2 No N/A
Uterus 2 No N/A
Vascular system 2 No N/A
White adipose tissue 2 No N/A
LacZ Wholemount Images
digestive system (1)
Stomach expression
MA:0000353
integumental system (1)
Skin expression
MA:0000151
postnatal mouse (3)
Skin expression
MA:0000151
reproductive system (1)
Testis expression
MA:0000411
trunk (2)
Stomach expression
MA:0000353
LacZ Section Images
 Expression  No Expression  Ambiguous  No Tissue Available
Anatomy #HET Specimens WT Expr Mutant Expr Images
Brain 1  (6/485) N/A
Ear 1  (1/485) N/A
Embryo 1  (1/485) N/A
Eye 1  (1/485) N/A
Foot 1  (1/485) N/A
Forebrain 1  (1/485) N/A
Forelimb 1  (1/485) N/A
Hand 1  (1/485) N/A
Head 1  (5/485) N/A
Heart 1  (1/485) N/A
Hindbrain 1  (6/485) N/A
Hindlimb 1  (1/485) N/A
Liver 1  (1/485) N/A
Lung 1  (1/485) N/A
Mandibular process 1  (1/485) N/A
Maxillary process 1  (1/485) N/A
Midbrain 1  (1/485) N/A
Oral cavity 1  (1/485) N/A
Skin 1  (1/485) N/A
Tail 1  (1/485) N/A
Tail somite 1  (1/485) N/A

 Associated Images

Embryo LacZ: LacZ images wholemount
8 Images
Auditory Brain Stem Response: Click-evoked + 6 to 30kHz tone waveforms (pdf format)
4 Images
X-ray: XRay Images Dorso Ventral
10 Images
X-ray: XRay Images Lateral Orientation
10 Images
X-ray: XRay Images Skull Dorso Ventral Orientation
10 Images
Echo: M-Mode Images
28 Images
Adult LacZ: LacZ Images Wholemount
3 Images

 Disease Models

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 Order Mouse and ES Cells

MGI Allele Allele Type Availability
Npc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Npc1tm83360(L1L2_Bact_P) Targeting vectors
Npc1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice