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Gene: Cyp8b1 MGI:1338044

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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:
cytochrome P450, family 8, subfamily b, polypeptide 1
Synonyms:
sterol 12-alpha-hydrolase

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 Cyp8b1 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 Cyp8b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di... OMIM:235555
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol co... OMIM:246700
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea OMIM:618752
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Bile Acid Synthesis Defect, Congenital, 6
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:617308
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Eleva... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Dia... ORPHA:71
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Diarrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhe... OMIM:602579
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency OMIM:612714
Wolman Disease
Hepatomegaly, Splenomegaly, Esophageal varix, Steatorrhea, Hepatic failure ORPHA:75233
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:605911
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea OMIM:615935
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea ORPHA:440713
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-losing enteropathy,... OMIM:615863
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Duodenal ulcer, Steatorrhea ORPHA:3217
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Gastrointestinal hemorrhage, Splenomegal... OMIM:613471
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis... ORPHA:75234
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype... ORPHA:97283
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic hepatitis, Cirrhosis, Steatorrhea, Exocrine pancreatic insufficiency OMIM:269200
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic dia... ORPHA:14
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Celiac disease, Diarrhea, Vomiting, Hypocalcemia, Recurrent aphtho... OMIM:212750
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Diarrhea, In... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Diarrhea, Hepatic fibrosis, Hypoalb... OMIM:212065
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... ORPHA:79301
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Vomiting, Hepatomegaly, Abnormal circulating serine conc... ORPHA:470
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:329249
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Biliary cirrhosis, Hepatosplenome... OMIM:219700
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Shwachman-Diamond Syndrome 2
Hepatomegaly, Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic in... OMIM:617941
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Hype... ORPHA:97280
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Hepatic steatosis OMIM:620357
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... ORPHA:30391
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Exocrine pancreatic insufficiency, Steatorrhea OMIM:260400
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:2176
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Macroglossia, Elevated circulating alkaline phospha... OMIM:618268
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... ORPHA:369
Cystic Fibrosis
Elevated hepatic transaminase, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the... ORPHA:586
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan... OMIM:616263
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I... OMIM:238600
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Sp... ORPHA:699
Potocki-Lupski Syndrome
Gastroesophageal reflux, High palate, Oral-pharyngeal dysphagia, Hypocholesterolemia OMIM:610883
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice OMIM:201400
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Diarrhea, Colitis, Steatorrhea ORPHA:309031
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Nausea OMIM:618549
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c... OMIM:618156
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver dise... ORPHA:65682
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Hypoamyla... ORPHA:811
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting ORPHA:83620
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Increased serum pyruvate, Episodic vomiting, Hyperammonemia, Eleva... OMIM:615160
Sapho Syndrome
Malabsorption, Inflammation of the large intestine, Chronic diarrhea, Steatorrhea ORPHA:793
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Abnormality of the gastrointestinal tract ORPHA:2089
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... OMIM:613490
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, Elevated g... ORPHA:53035
Hyperbiliverdinemia
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis OMIM:614156
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Decreased LDL... ORPHA:96180
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pancreatic adenocarcinoma... ORPHA:2869
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Vomiting OMIM:616483
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... OMIM:613470
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... ORPHA:100086
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... ORPHA:247585
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... OMIM:266200
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Mirizzi Syndrome
Elevated hepatic transaminase, Nausea, Pancreatitis, Jaundice, Elevated circulating alkaline phos... ORPHA:521219
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Metachromatic Leukodystrophy
Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis OMIM:250100
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis OMIM:235700
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Elevated alkaline phosphatase of bone origin, Mal... ORPHA:398063
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Abnormal circulating enzyme concentration or activit... ORPHA:79324
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Elevated circulating alkali... ORPHA:69665
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating cre... OMIM:611881
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia, Cholestasis OMIM:609734
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Kaufman Oculocerebrofacial Syndrome
High palate, Constipation, Intestinal malrotation, Hypocholesterolemia OMIM:244450
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very l... OMIM:609313
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia OMIM:200100
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Dubowitz Syndrome
Velopharyngeal insufficiency, Chronic diarrhea, Submucous cleft hard palate, High palate, Gastroe... OMIM:223370
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal... ORPHA:98908
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Aganglionic megacolon, Intestinal malrotation, Splenomegaly, Gastrointestinal dysmo... OMIM:270400
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function... ORPHA:1333
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Hyperproteinemia, Increased circulating renin l... ORPHA:90041
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X... OMIM:232220
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Elevated a... ORPHA:171
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he... OMIM:617156
Triploidy
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Abnormality of the gallbladder... ORPHA:3376
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Gastrointes... OMIM:276700
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Intestinal polyposis, Portal hypertension, Esophageal varix, Cholecy... ORPHA:774
Vacterl/Vater Association
Abnormality of the pancreas, Anorectal anomaly, Abnormality of the gallbladder, Tracheoesophageal... ORPHA:887
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis OMIM:615512
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate ORPHA:2075
Rett Syndrome
Increased serum pyruvate, Cholecystitis, Hyperammonemia ORPHA:778
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Cholangitis, Celiac disease, Cholecystitis ORPHA:183675
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma... ORPHA:781
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder ORPHA:309271
Listeriosis
Liver abscess, Jaundice, Peritonitis, Diarrhea, Hepatic granulomatosis, Vomiting, Cholecystitis, ... ORPHA:533
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cleft palate, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Cholelithiasis OMIM:301066
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Hematemesis... ORPHA:99827
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Kawasaki Disease
Jaundice, Diarrhea, Hepatitis, Cholecystitis, Glossitis ORPHA:2331
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Pyloric stenosis, Abnormality of the gallbladder, Cleft palate, Gastroesop... ORPHA:818
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... ORPHA:449395
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Abdominal situs inversus, Cleft palate ORPHA:280

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 Cyp8b1

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 Cyp8b1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bile acid-independent protection against Clostridioides difficile infection. PLoS pathogens (October 2021) Cyp8b1tm1(KOMP)Vlcg PMC8555850
Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition. American journal of physiology. Endocrinology and metabolism (October 2017) Cyp8b1tm1(KOMP)Vlcg 29066462
Loss of Cyp8b1 improves glucose homeostasis by increasing GLP-1. Diabetes (October 2014) Cyp8b1tm1(KOMP)Vlcg 25338812

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cyp8b1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cyp8b1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Cyp8b1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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