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Gene: Bco1 MGI:1926923

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

beta-carotene oxygenase 1

Synonyms:

Bcdo1, beta-CD, Bcdo, betaCMOOX, Cmoi, Bcmo1

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 Bco1 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.

Human diseases associated with Bco1 (1 diseases)
Human diseases predicted to be associated with Bco1 (251 diseases)

The table below shows human diseases associated to Bco1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant			OMIM:115300

The table below shows human diseases predicted to be associated to Bco1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ...	OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 10	Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co...	OMIM:619868
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Citrullinemia, Type Ii, Neonatal-Onset	Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm...	OMIM:605814
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis...	OMIM:614480
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c...	OMIM:616828
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Hyperlipidemia, Familial Combined, 3	Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co...	OMIM:144250
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:610947
Cholesteryl Ester Storage Disease	Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi...	ORPHA:75234
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste...	OMIM:612526
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig...	ORPHA:209902
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H...	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer...	OMIM:619662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased ...	ORPHA:71212
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele...	OMIM:617156
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ...	OMIM:610717
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce...	OMIM:278000
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia	OMIM:601466
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration...	OMIM:207750
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Analbuminemia	Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen...	OMIM:616000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E...	OMIM:603471
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated ...	ORPHA:26793
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Hemochromatosis Type 4	Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi...	ORPHA:139491
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:619048
Growth Hormone Insensitivity Syndrome	Failure to thrive, Truncal obesity, Hypercholesterolemia	ORPHA:181393
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Temple Syndrome	Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hypercholesterolemia, Overweight	OMIM:616222
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ...	ORPHA:247585
Hypermethioninemia Due To Adenosine Kinase Deficiency	Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,...	OMIM:614300
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Increased circulating copper concentration, Hepatic steatosis	ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Hepatic steatosis	OMIM:615595
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor...	ORPHA:247598
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis	ORPHA:26792
African Iron Overload	Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno...	ORPHA:139507
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:619386
Gracile Syndrome	Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles...	ORPHA:53693
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co...	ORPHA:370
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Hepatic steatosis, Elevate...	OMIM:606069
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level	ORPHA:2457
Galactokinase Deficiency	Failure to thrive, Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Increased level o...	ORPHA:79237
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa...	ORPHA:567983
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati...	OMIM:255120
Hyperlipoproteinemia, Type I	Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu...	OMIM:238600
Dysbetalipoproteinemia	Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A...	ORPHA:412
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly	OMIM:615238
Cog4-Cdg	Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infancy, Hyp...	ORPHA:263501
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatomegaly, Increased C-peptide level, Cirrhosis, Hypertriglyceridemia, Hype...	ORPHA:528
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase	OMIM:617093
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato...	ORPHA:369840
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula...	ORPHA:264580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure	OMIM:617872
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin...	ORPHA:86816
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa...	OMIM:301045
Carnitine Deficiency, Systemic Primary	Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ...	OMIM:212140
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Increased circulating free fatty acid level	OMIM:610768
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Chylomicron Retention Disease	Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp...	OMIM:246700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia	ORPHA:254531
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat...	ORPHA:79303
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula...	ORPHA:228305
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hyperprolinemia, Hepatic steatosis	OMIM:615918
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ...	OMIM:600649
Chylomicron Retention Disease	Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep...	ORPHA:71
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato...	ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splen...	OMIM:607765
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614582
Infantile Liver Failure Syndrome 3	Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ...	OMIM:618641
Immunodeficiency 47	Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, ...	OMIM:300972
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic...	OMIM:619013
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp...	ORPHA:567548
Laron Syndrome	Truncal obesity, Hypercholesterolemia	ORPHA:633
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k...	ORPHA:42
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity, Hypercholesterolemia	OMIM:615812
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ...	OMIM:201475
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, Hypercholesterolemia	OMIM:182290
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Cidec-Related Familial Partial Lipodystrophy	Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:435651
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Obesity, Small for gestational age, Truncal obesity, Hypercholesterolemia	ORPHA:96184
Lipe-Related Familial Partial Lipodystrophy	Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri...	ORPHA:435660
Familial Chylomicronemia Syndrome	Failure to thrive, Hyperlipidemia, Decreased body weight, Hepatosplenomegaly, Acute pancreatitis,...	ORPHA:444490
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis	ORPHA:363400
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hepatic ...	OMIM:604367
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:264470
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Liver Failure, Infantile, Transient	Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Macrov...	OMIM:613070
Wilson Disease	Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic...	ORPHA:905
Infantile Liver Failure Syndrome 1	Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:201450
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre...	ORPHA:99901
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos...	OMIM:256810
Lysosomal Acid Lipase Deficiency	Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, S...	ORPHA:275761
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat...	ORPHA:101330
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia	ORPHA:401923
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hepatic failure, Low plasma citrulline, Elevated circulating alanine aminotransfera...	OMIM:261680
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase	OMIM:615381
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis	OMIM:614924
Sitosterolemia 1	Splenomegaly, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperchol...	OMIM:210250
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Interstitial Lung And Liver Disease	Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Intraalveolar phosph...	OMIM:615486
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato...	ORPHA:470
Smith-Magenis Syndrome	Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia	ORPHA:819
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ...	OMIM:151660
Adrenomyodystrophy	Hepatic steatosis	OMIM:300270
Primary Lipodystrophy	Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis	ORPHA:90970
Dpm1-Cdg	Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent...	ORPHA:79322
Pparg-Related Familial Partial Lipodystrophy	Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hyperuricemia, Hepatic...	ORPHA:79083
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati...	OMIM:212138
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Failure to thrive, Hepatic steatosis	ORPHA:70472
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hypertr...	ORPHA:98907
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	ORPHA:300536
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H...	ORPHA:228308
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur...	ORPHA:90041
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hepatic steatosis	ORPHA:52430
Familial Partial Lipodystrophy, Dunnigan Type	Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:2348
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi...	ORPHA:2137
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Neonata...	ORPHA:90674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content...	ORPHA:79259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty acid conce...	OMIM:608836
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hyperalanin...	ORPHA:298
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin...	OMIM:614921
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi...	OMIM:619418
Osteootohepatoenteric Syndrome	Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, ...	OMIM:619377
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Truncal obesity,...	OMIM:203800
Acquired Generalized Lipodystrophy	Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancreatitis, Hypertrigl...	ORPHA:79086
Aicardi-Goutieres Syndrome 9	Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transam...	OMIM:619487
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Failure to thrive, Pancreatitis, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis	OMIM:236200
Abetalipoproteinemia	Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi...	ORPHA:14
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis...	ORPHA:541423
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration...	OMIM:613327
Bardet-Biedl Syndrome 20	Obesity, Elevated hepatic transaminase, Pancreatitis, Hypercholesterolemia	OMIM:619471
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hy...	ORPHA:189427
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia	OMIM:249310
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive	OMIM:210200
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated hepatic transaminase, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatic ...	ORPHA:348
19P13.12 Microdeletion Syndrome	Obesity, Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets	OMIM:220111
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr...	OMIM:231680
Congenital Disorder Of Glycosylation, Type Ia	Failure to thrive, Hepatomegaly, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia,...	OMIM:212065
Wilson Disease	Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Sp...	OMIM:277900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia	OMIM:248370
Primary Pigmented Nodular Adrenocortical Disease	Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hy...	ORPHA:189439
Alagille Syndrome 1	Failure to thrive, Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failur...	OMIM:118450
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Elevated hepatic t...	OMIM:618329
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly	OMIM:275630
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure	OMIM:231530
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia	ORPHA:363618
Seckel Syndrome 10	Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Acute pan...	OMIM:617253
Fructose Intolerance, Hereditary	Failure to thrive, Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepati...	OMIM:229600
D-Bifunctional Protein Deficiency	Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile d...	OMIM:261515
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatic steatosis, Hepatomegaly	OMIM:614922
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Failure to thrive, Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatic stea...	OMIM:616263
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra...	ORPHA:98908
Monosomy 13Q34	Obesity, Infantile hypercalcemia, Hepatic steatosis	ORPHA:96168
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglycer...	ORPHA:280365
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis	OMIM:610198
Aromatase Deficiency	Obesity, Hyperlipidemia, Hepatic steatosis, Eunuchoid habitus	ORPHA:91
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating aspartate aminot...	OMIM:619534
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati...	OMIM:203700
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Failure to thrive ...	ORPHA:746
Pearson Syndrome	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Exocrine pancreatic insufficiency, H...	ORPHA:699
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatomegaly, ...	OMIM:615356
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Hepatic failure...	OMIM:619573
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Small for gestational a...	OMIM:613658
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Hepatic steatosis, Small for gestational...	ORPHA:2959
Mucopolysaccharidosis-Plus Syndrome	Macrovesicular hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Splenomegaly	OMIM:617303
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Eleva...	ORPHA:93111
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Splenomegaly, Elevated hemoglobin A1c, Cirrhosis, Acute pancreatitis, Hypertriglyce...	OMIM:269700
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He...	OMIM:619991
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Bicarbonaturia, Hypercholesterolemia, Elevated maternal serum alpha-fetoprotei...	OMIM:309000
3-Hydroxy-3-Methylglutaric Aciduria	Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Acute pancreatitis, Elevated hep...	ORPHA:20
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic transaminase, Hypertr...	OMIM:608594
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Eleva...	OMIM:124000
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac...	ORPHA:66634
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver function	ORPHA:436271
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolem...	ORPHA:534
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis	ORPHA:445038
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Spleno...	ORPHA:404454
Visceral Steatosis, Congenital	Hypocalcemia, Hepatic steatosis, Jaundice	OMIM:228100
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Small for gestational age, Hypertriglyceridemia, Recurrent pancreatitis, Hyper...	OMIM:606721
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hepatitis, Weight loss,...	OMIM:615846
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat...	OMIM:618278
Bloom Syndrome	Elevated hemoglobin A1c, Hepatic steatosis, Small for gestational age	OMIM:210900
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis	OMIM:616271
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly	OMIM:619273
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Methylmalonic acidemia, Hepatic s...	ORPHA:17
Steinert Myotonic Dystrophy	Cholelithiasis, Elevated hepatic transaminase, Hypercholesterolemia	ORPHA:273
Smith-Lemli-Opitz Syndrome	Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Spleno...	OMIM:270400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Failure to thrive, Hepatomegaly, Increased hepatocellular lipid droplets	OMIM:220110
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co...	OMIM:619525
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Abdominal obesity, Azotemia, Hepatic steatosis	OMIM:619321
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Large for gestational age, Elevated he...	OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Failure to thrive, Decreased body weight, Jaundice, Hyperbilirubinemia, Overweight, Elevated hepa...	OMIM:619475
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Hypertriglyceridemia, El...	OMIM:619127
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Hepatic fibr...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Hepatic fibr...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Hepatic fibr...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Hepatic fibr...	ORPHA:99226
Atypical Werner Syndrome	Hypertriglyceridemia, Failure to thrive, Decreased body weight, Hepatic steatosis	ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
1P36 Deletion Syndrome	Annular pancreas, Failure to thrive, Abnormality of the spleen, Obesity, Hepatic steatosis, Abnor...	ORPHA:1606
Ogden Syndrome	Jaundice, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Hyperbilirubinemia	OMIM:300855
Digeorge Syndrome	Cholelithiasis, Hypocalcemia, Splenomegaly, Obesity, Hepatic steatosis	OMIM:188400
Wiedemann-Rautenstrauch Syndrome	Slender build, Hypertriglyceridemia, Failure to thrive, Hepatic steatosis	ORPHA:3455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Hypomagnesemia, Hypocalcemia, Hepatosplenomegaly, Cholestasis, Portal hyperten...	OMIM:619503
Alström Syndrome	Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Splenomeg...	ORPHA:64
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant		OMIM:115300

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 Bco1

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 Bco1.

No publications found that use IMPC mice or data for Bco1.

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MGI Allele	Allele Type	Produced
Bco1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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