Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier organic anion transporter family, member 1b2
Synonyms:
Oatp1b2,  mlst-1,  7330442B20Rik,  Slc21a10,  Slc21a6

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Slco1b2 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.

The table below shows human diseases associated to Slco1b2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Intermitten... ORPHA:3111
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450

The table below shows human diseases predicted to be associated to Slco1b2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hypervalinemia And Hyperleucine-Isoleucinemia
Hyperleucinemia, Hypervalinemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618850
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Intermitten... ORPHA:3111
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... OMIM:617156
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbili... OMIM:214900
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia OMIM:179700
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Jaundice OMIM:237800
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased total bilirubin, Jaundice ORPHA:890
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating corticosterone level, Increased circulating ren... OMIM:610600
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Increased tota... OMIM:174050
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Elevated circulating alkaline phosphatase concentr... OMIM:235555
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Reduced red cell pyruvate kinase level, Unconjugated hyperbilirubinemia, El... ORPHA:766
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemi... ORPHA:158048
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Cirr... OMIM:607765
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Cirrhosis, Increased circulating ferritin conc... OMIM:616860
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia... OMIM:619484
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Inc... OMIM:243300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemi... OMIM:601775
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia OMIM:613673
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease ORPHA:2924
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ... ORPHA:556037
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis, Incre... ORPHA:90041
Cholesteryl Ester Storage Disease
Hepatomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failure, Jaundice ORPHA:75234
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Hyperbilirubinemia OMIM:609734
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... OMIM:605479
Refractory Celiac Disease
Hypoproteinemia, Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypocalcemia, Hy... ORPHA:398063
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, ... OMIM:612526
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ... ORPHA:556030
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevate... OMIM:617049
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:177735
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in b... ORPHA:3008
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hyperaldosteronism, Hypokalemia OMIM:214700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Harderoporphyria
Prolonged neonatal jaundice, Hepatomegaly, Increased circulating ferritin concentration, Neonatal... OMIM:618892
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Increased circulating ferritin concentration, Hepat... ORPHA:158057
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating fer... OMIM:603553
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Abnormal enzy... ORPHA:79320
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hypoalbuminemia OMIM:602579
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Mpi-Cdg
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal enzyme/coenzy... ORPHA:79319
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... OMIM:619013
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyponatremia, Hepatitis, Decreased circulating cortisol level ORPHA:199296
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransferas... ORPHA:158061
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Steatorrhea, Reduced lysosomal acid lipase activity, Portal hypertension, Dec... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:619658
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Abnormal... ORPHA:64743
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Cirrhosis,... OMIM:613313
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Abnormality of the liver, Acute h... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Hypoproteinemia, Jaundice OMIM:608093
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Conjugated hyperbilirubinemia, Elevated circul... OMIM:601847
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased total iron binding capacity, Hyperbilirubinemia, Increas... ORPHA:98870
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615895
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia, Elevated hepatic transam... OMIM:614480
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism OMIM:264350
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Hypoalbuminemia OMIM:608104
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated circulating sebacic acid conc... OMIM:615160
Spherocytosis, Type 4
Hyperbilirubinemia, Jaundice OMIM:612653
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal enzyme/coenzyme activity, Increased erythrocyte protoporphyrin concentrati... ORPHA:100924
Glycogen Storage Disease Vii
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Jaundice OMIM:232800
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Alg1-Cdg
Decreased liver function, Hypoalbuminemia ORPHA:79327
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Hyperbilirubinemia, Cholelithiasis, Cholecystitis OMIM:235700
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Cholestatic liver disease, Conjugated hyperbilirubinemia, Elevated hepatic ... OMIM:613404
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hepatocellular carcinoma, Elevated circulating creatine kinase concentration... ORPHA:88618
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spherocytosis, Type 1
Hyperbilirubinemia, Cholelithiasis, Jaundice OMIM:182900
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:95717
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Jaundice OMIM:185000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Hemochromatosis Type 2
Abnormality of iron homeostasis, Congenital hepatic fibrosis, Elevated transferrin saturation, In... ORPHA:79230
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Hereditary Coproporphyria
Hyponatremia, Hepatocellular carcinoma, Abnormal circulating porphyrin concentration ORPHA:79273
Dpm3-Cdg
Elevated hepatic transaminase, Elevated creatine kinase after exercise ORPHA:263494
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration, Elevated circulating alkaline phosph... ORPHA:69665
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia ORPHA:507
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Leptospirosis
Hepatomegaly, Hyperproteinemia, Elevated serum transaminases during infections, Hepatitis, Jaundice ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration OMIM:612937
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, Hypoalbum... ORPHA:367
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Spherocytosis, Type 2
Hyperbilirubinemia, Jaundice OMIM:616649
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal c... ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjuga... OMIM:211600
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Cholelithiasis, Hyperbilirubinemia, Hep... OMIM:614886
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Abnormal enzyme/coenzyme activity ORPHA:243343
Omenn Syndrome
Hypoproteinemia, Hepatomegaly OMIM:603554
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis OMIM:300752
Relapsing Fever
Elevated circulating creatinine concentration, Increased total bilirubin, Increased circulating l... ORPHA:91547
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Dengue Fever
Hypoproteinemia, Hepatomegaly ORPHA:99828
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Unconjugated hyperbilirubinemia, Cholelithiasis, Cholecystitis OMIM:266200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia, Elevated circulating aspart... OMIM:300555
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Immunodeficiency 27A
Hepatosplenomegaly, Hypoalbuminemia OMIM:209950
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Jaundice OMIM:616689
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Cholestatic liver disease, Conjugated hyperbilirubinemia, Elevated hepatic ... OMIM:208085
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Hyperalaninemia, Elevated hepatic transaminase OMIM:616974
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly, Elevated cir... ORPHA:263501
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Abnormal enzyme/coenzy... ORPHA:79237
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Increased circulating fer... ORPHA:3202
Hemochromatosis, Type 3
Increased serum iron, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... OMIM:604250
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:269920
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Elevated gamma-g... ORPHA:53035
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Steatorrhea, Elevated circulating alkaline phosphat... OMIM:613471
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Cholestatic liver disease, Decreased liver function, Increased circulating ferritin... ORPHA:540
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Hypocalcemia OMIM:259720
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Hyperbilirubinemia, Cholesterol gallstones, Abnormality ... ORPHA:521219
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Hepatocellular Carcinoma
Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Hypokalemia, Hepatic necrosis, Hyperbilirub... ORPHA:88673
Cystic Echinococcosis
Hepatomegaly, Biliary tract obstruction, Hepatic cysts, Hyperbilirubinemia, Cholestatic liver dis... ORPHA:400
Cholestasis, Intrahepatic, Of Pregnancy 3
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... OMIM:614972
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hepatomegaly, Hepatic failure, Hypocalcemia OMIM:235255
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Elevated gamma-glutamyltransferase level, Macrovesicular hepatic steatos... OMIM:618329
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehyd... OMIM:300908
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased total bilirubin, Acute hepatitis, Diffus... ORPHA:2137
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly, Increased circulating lactate ... ORPHA:71275
Saccharopinuria
Hypercystinemia, Abnormality of circulating enzyme level, Hyperammonemia, Elevated plasma citrull... ORPHA:3124
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Porphyria Variegata
Hyponatremia, Hepatocellular carcinoma, Abnormality of the liver, Abnormal enzyme/coenzyme activi... ORPHA:79473
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Cholelithiasis, Prolonged neonatal jaundice, Jau... ORPHA:288
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Hartsfield Syndrome
Hypernatremia OMIM:615465
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... OMIM:600649
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Mitchell-Riley Syndrome
Acholic stools, Hyperbilirubinemia, Absent gallbladder, Biliary atresia, Cholestasis OMIM:615710
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased... ORPHA:528
Avian Influenza
Elevated circulating creatine kinase concentration, Hepatitis, Increased circulating lactate dehy... ORPHA:454836
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... ORPHA:79240
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Pigment gallstone... ORPHA:232
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Fatal liver failu... ORPHA:275761
Alg8-Cdg
Elevated hepatic transaminase, Hyponatremia ORPHA:79325
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Acute hepatic failure, Hyperammonemia OMIM:615453
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Jaundice OMIM:109270
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Hypoalbuminemia, Elevated circulating alkaline phosphatase concent... ORPHA:67
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Hepatosplenomegaly, Increased circulating... OMIM:238600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatomegaly, Hepatosplenomegaly, Hepatic failure, Hypocalcemia ORPHA:1655
Congenital Enterovirus Infection
Hepatitis, Hyperammonemia, Cholestasis, Hepatic failure, Hypoalbuminemia ORPHA:292
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Abn... ORPHA:348
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Snakebite Envenomation
Hyponatremia ORPHA:449285
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Fumarase Deficiency
Cholestasis, Hepatic failure, Hyperbilirubinemia OMIM:606812
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Decreased LDL cholestero... ORPHA:14
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Elevated gamma-gl... OMIM:603471
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... OMIM:255120
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricosuria, Cirrhosis, Hepatic steatosis... OMIM:229600
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Hyperaldosteronism, Increased circulati... ORPHA:89938
Laron Syndrome
Hypercholesterolemia ORPHA:633
Graft Versus Host Disease
Hyperbilirubinemia, Acute hepatitis, Hepatosplenomegaly, Elevated circulating alkaline phosphatas... ORPHA:39812
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Decreased liver function, Increased circulating ferritin concentra... ORPHA:167
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Legionnaires Disease
Hyponatremia, Hepatitis, Jaundice ORPHA:549
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypocholesterolemia, Hepatic steatosis, Hypoalbuminemia, Elevated... OMIM:212065
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Reduced carnitine O-palmitoyltransferase level, El... ORPHA:228305
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Increased circulating ferritin concentration, Hepatosp... ORPHA:210136
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level, Jaundice ORPHA:90790
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Elevated circulating sitosterol concentration, Hy... OMIM:210250
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Hereditary Spherocytosis
Hepatomegaly, Hyperbilirubinemia, Cholelithiasis, Jaundice ORPHA:822
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Decreased circulating cortisol level ORPHA:90791
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Becker Muscular Dystrophy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration ORPHA:98895
Infant Botulism
Hyponatremia ORPHA:178478
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Cirrhosis, Hepatic steatosis, Elev... OMIM:300972
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:617713
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... OMIM:613812
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Hypercalcemia, Abnormal lactate dehydrogenase level, Elevated crea... ORPHA:284426
Glutaric Acidemia Type 3
Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentration ORPHA:35706
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Cirrhosis,... OMIM:222470
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev... OMIM:619481
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperaldosteronism,... OMIM:241200
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618549
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neon... ORPHA:90674
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hyperammonemia, Elevated plasma branched chain amino acids, Hep... ORPHA:2394
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Elevated alkalin... ORPHA:171
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hepatitis, Hyperuricemia, Decreased circulating cortisol level ORPHA:199299
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Increase... ORPHA:84081
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated alkaline phosphatase of bo... ORPHA:411634
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... ORPHA:95409
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Hypoalbuminemia, Elevated ... OMIM:619487
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Pierson Syndrome
Hypoproteinemia OMIM:609049
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... OMIM:600803
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Elevated hepatic transaminase, Abnormal enzym... ORPHA:79324
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Elevated aldolase level, Increased circulating lac... ORPHA:99845
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating creatin... ORPHA:36234
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:361
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Whipple Disease
Hepatomegaly, Hyponatremia ORPHA:3452
Shigellosis
Hyponatremia, Cholestasis, Hepatic failure, Abnormal blood ion concentration ORPHA:810
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hyperammonemia, Jaundice OMIM:616483
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hepatitis, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Elevated he... ORPHA:37042
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... OMIM:614817
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Elevated circulating creatine kinase concentration, Cholelithiasis, Cholest... ORPHA:79095
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Al Amyloidosis
Hepatomegaly, Abnormality of the liver, Increased circulating NT-proBNP concentration, Elevated c... ORPHA:85443
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased liver... ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hepatomegaly, Hypoalbuminemia OMIM:617303
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated hepatic transaminase, Hyperbilirubinemia... OMIM:607330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Increased circulating fe... OMIM:235200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Elevated hepatic iron concentration, Incr... ORPHA:300298
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Acute Intermittent Porphyria
Hyponatremia, Hepatocellular carcinoma, Abnormal enzyme/coenzyme activity ORPHA:79276
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hyperglutaminemia, Elevated circulating creatine kinase concentration, Hyperalaninemia, Hyperprol... OMIM:619355
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, C... ORPHA:90363
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level ORPHA:293978
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Hepatic failure ORPHA:156
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Hyponatremia, Cholangiocarcinoma, Hepatic... ORPHA:731
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Bile duct proliferation, Hypocalcemia, Cirrhosis, Hepatic steato... OMIM:613658
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Conjugated hyperbilirubinemia, Jaundice OMIM:210550
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... OMIM:602347
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... ORPHA:85138
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level ORPHA:95613
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hep... OMIM:618641
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Cirrhosis, Hypertrigly... OMIM:613027
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95513
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:2089
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Liver abscess ORPHA:54251
Familial Dysautonomia
Hyponatremia ORPHA:1764
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Abnormal circulating acetylcar... ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Jaundice ORPHA:168577
Hardikar Syndrome
Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... OMIM:301068
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Absent gallbladder ORPHA:163979
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Acyl-Coa Dehydrogenase 9 Deficiency
Hyperammonemia, Elevated creatine kinase after exercise, Hepatic steatosis, Acute hepatic failure... ORPHA:99901
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Hypotrig... ORPHA:2298
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia, Decreased circulating cortisol level ORPHA:90794
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level ORPHA:91355
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia OMIM:619471
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated circulating... OMIM:619534
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Portal fibrosis, Bile duct proliferation, Hyperbilirubinemia, Cholesta... OMIM:613610
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, H... OMIM:151660
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Increased circu... ORPHA:447
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Polycystic liver disease, Conjugated hyperbilirubinemi... OMIM:208500
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Hyperammonemia, Elevated circulating acylc... ORPHA:159
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Hyperbilirubinemia ORPHA:464321
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Micronodular cirrhosis, Abnormal bloo... ORPHA:309854
Japanese Encephalitis
Hyponatremia ORPHA:79139
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... OMIM:212138
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Hypoalbuminemia ORPHA:505248
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Hypertyrosinemia, Cirrhosis, Acute hepatic failure, Eleva... OMIM:276700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Hyperlipidemia, Hepat... ORPHA:79259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Hyperlipidemia ORPHA:293987
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Cirrhosis, Hypercholesterolemia, Cholest... OMIM:118450
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Cystinosis, Nephropathic
Hepatomegaly, Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia OMIM:219800
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Holoprosencephaly
Hyponatremia ORPHA:2162
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Hypoammonemia ORPHA:534
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Increased erythrocyte protoporphyrin concentration, Unconjugated hyper... ORPHA:79277
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fe... OMIM:309000
Juvenile Polyposis Syndrome
Hypoproteinemia, Hepatic arteriovenous malformation, Extrahepatic portal hypertension ORPHA:2929
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Jaundice OMIM:619475
Degcags Syndrome
Hepatomegaly, Hepatosplenomegaly, Cholestasis, Hyperbilirubinemia OMIM:619488
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Tropical Endomyocardial Fibrosis
Hepatomegaly, Hypoalbuminemia ORPHA:75565
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Hypercholesterolemia, Cholelithiasis ORPHA:273
Pmm2-Cdg
Hepatic fibrosis, Abnormal liver parenchyma morphology, Reduced thyroxin-binding globulin, Hypoal... ORPHA:79318

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 Slco1b2

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 Slco1b2.

No publications found that use IMPC mice or data for Slco1b2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slco1b2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slco1b2tm44016(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slco1b2tm44016(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slco1b2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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