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Gene: Npc1l1 MGI:2685089

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
NPC1 like intracellular cholesterol transporter 1
Synonyms:
Niemann-Pick disease, type C1,  9130221N23Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Npc1l1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Npc1l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Chylomicron Retention Disease
Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia,... OMIM:246700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:607765
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hypertriglyce... OMIM:615558
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Elevated circulating hepatic transaminase concentration, H... ORPHA:71
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... OMIM:266510
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Chronic constipation, Hypercholesterolemia, Hypog... OMIM:620211
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Vomiting, Diarrhea, Failure to thrive, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea, Failure to thrive, Elevated circulating hepatic tr... OMIM:620357
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Potocki-Lupski Syndrome
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Small... OMIM:610883
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol l... ORPHA:97283
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H... ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hyperchole... OMIM:612526
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly OMIM:608776
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice, Fasting hypoglycemia OMIM:201400
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL cholesterol concentration, Const... OMIM:618156
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... ORPHA:79237
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... OMIM:231100
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia, Elevated circulating creatinine conce... OMIM:617872
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Diarrhea, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulati... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Elevated circulating hepatic tra... OMIM:605911
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Increased LDL cholesterol concentrati... OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Vomiting, Diarrhea, Failure to thrive, Portal fibrosis, Elevated circulating he... ORPHA:264580
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypotriglyceridemia, Failure to thrive, Elevated cir... ORPHA:14
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n... ORPHA:199296
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Failure to thrive, Elevated circulating he... OMIM:212065
Propionic Acidemia
Hepatomegaly, Constipation, Hyperammonemia, Hypoglycemia ORPHA:35
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Decreased circulating carnitine ... ORPHA:71212
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Vomiting, Decrease... ORPHA:2394
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Glycogen Storage Disease Ixb
Diarrhea, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatome... OMIM:261750
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Vomiting, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Re... ORPHA:79240
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate... OMIM:255120
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... ORPHA:2088
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Glucocorticoid Deficiency 3
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:609197
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Hypoglycemia, Hyperammonemia, Pancreatitis OMIM:620137
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Reactive hypoglycemia, Decreased circulating cortisol level, Hypoinsulinemia OMIM:600955
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Gaisböck Syndrome
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... ORPHA:90041
Infantile Liver Failure Syndrome 2
Vomiting, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic fa... OMIM:616483
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Chronic diarrhea, Steatorrhea ORPHA:309108
Alg12-Cdg
Hypoalbuminemia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration... ORPHA:79324
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreonin... ORPHA:247598
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Reduced haptoglobin level, Splenomegaly, Jaundice, Hepatomegaly, U... OMIM:266200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Hypoglycemia OMIM:201910
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618839
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hepatic stea... ORPHA:412
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Vomiting, Periportal f... OMIM:251880
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Weight l... ORPHA:100086
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Incre... ORPHA:69665
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Constipation, Failure to thrive OMIM:244450
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... OMIM:261680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Vomiting, Decreased circulating carnitine concentration, Elevated circulating hepatic transaminas... OMIM:201450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Hypoglycem... OMIM:619418
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma... ORPHA:2869
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia ORPHA:664
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Dubowitz Syndrome
Hypocholesterolemia, Gastroesophageal reflux, Chronic diarrhea, Episodic vomiting OMIM:223370
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemi... OMIM:615453
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... OMIM:617093
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Achalasia, Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Ja... ORPHA:90790
Glycogen Storage Disease Xii
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin... OMIM:611881
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cholestatic liver disease, Vomiting, Gastroesophageal reflux, Failure to thrive,... OMIM:270400
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreati... OMIM:232240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:3376
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive ORPHA:349
Glycerol Kinase Deficiency
Vomiting, Hypoglycemia, Chronic pancreatitis, Episodic vomiting, Hypertriglyceridemia, Nausea, Hy... OMIM:307030
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Hypoglycemic seizures, Failure to thrive, Hypoglyc... ORPHA:79259
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Rett Syndrome
Cholecystitis, Increased serum pyruvate, Hyperammonemia, Failure to thrive ORPHA:778
Tyrosinemia, Type I
Hypermethioninemia, Gastrointestinal hemorrhage, Hepatic failure, Elevated circulating hepatic tr... OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Obesity, Hepatosplenomegaly, Cholecystitis, Chronic constipation, H... OMIM:301066
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Elevated circulating hepatic transaminase concentration, F... OMIM:229600
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun... OMIM:615512
Multiple Endocrine Neoplasia, Type I
Diarrhea, Increased circulating cortisol level, Hypoglycemia, Insulinoma, Esophagitis, Pancreatic... OMIM:131100
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Cholecystitis, Cholangitis, Diabetes mellitus, Liver abscess ORPHA:183675
Vacterl/Vater Association
Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:887
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Bowel incontinence, Cholecystitis ORPHA:309271
Listeriosis
Vomiting, Diarrhea, Cholecystitis, Nausea, Peritonitis, Hepatic granulomatosis, Splenic abscess, ... ORPHA:533
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Decreased liver function, Abnormal mesentery morphology,... ORPHA:449395
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Gastroesophageal reflux, Elevated circulating 7-dehydrocholestero... ORPHA:818
Kawasaki Disease
Hypoalbuminemia, Diarrhea, Hepatitis, Cholecystitis, Elevated circulating C-reactive protein conc... ORPHA:2331
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Diarrhea, Parotitis, Cholecystitis, Splenomegaly, Elevated circulating creatine ... ORPHA:99827
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Failure to thrive, Abdominal situs inversus ORPHA:280
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis,... ORPHA:774

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Npc1l1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Npc1l1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption. Science (New York, N.Y.) (June 2018) Npc1l1tm1a(EUCOMM)Hmgu 29880681
The clathrin adaptor Numb regulates intestinal cholesterol absorption through dynamic interaction with NPC1L1. Nature medicine (December 2013) Npc1l1tm1a(EUCOMM)Hmgu 24336247

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Npc1l1tm37(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Npc1l1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Npc1l1tm37(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Npc1l1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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