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Gene: Pon1 MGI:103295

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paraoxonase 1
Synonyms:
Pon

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 Pon1 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 Pon1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
ORPHA:803

The table below shows human diseases predicted to be associated to Pon1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis OMIM:603813
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:604091
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia, Decreased lecithin cho... OMIM:245900
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Premature coronary artery atherosclerosis OMIM:608320
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis OMIM:145750
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Jaundice, Arteriosclerosis, Hypercholesterolemia, Hepatic failure ORPHA:75234
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:618463
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Foam cells with lamellar inclusion... OMIM:607616
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sea-Blue Histiocyte Disease
Foam cells, Elevated circulating alanine aminotransferase concentration, Elevated circulating asp... OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... OMIM:619868
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... OMIM:618620
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Increased LDL cholesterol concentra... ORPHA:209902
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... OMIM:278000
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Xanthelasma, ... ORPHA:425
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Type ... ORPHA:412
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Premature coronary artery atherosc... OMIM:610947
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Atherosclerosis ORPHA:2724
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... OMIM:616828
Fish-Eye Disease
Decreased HDL cholesterol concentration, Atherosclerosis ORPHA:79292
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc... ORPHA:140905
Gm1-Gangliosidosis, Type Iii
Decreased beta-galactosidase activity, Foam cells OMIM:230650
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... ORPHA:494424
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Analbuminemia
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... OMIM:616000
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Coronary artery atherosclerosis OMIM:616833
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:619662
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis OMIM:143890
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Atherosclerosis ORPHA:1979
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Low cholesterol esterific... OMIM:257220
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Prominent veins on trunk, Hyperuricemia, Coronary artery atherosclerosis, A... ORPHA:79083
Lipodystrophy, Familial Partial, Type 1
Prominent superficial veins, Hypertriglyceridemia, Coronary artery atherosclerosis OMIM:608600
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Peripher... ORPHA:391665
Niemann-Pick Disease, Type A
Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotransferase concen... OMIM:257200
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Coronary artery atherosclerosis, Atherosclerosis ORPHA:2348
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Foam cells, Elevated carcinoembryonic antigen level ORPHA:264675
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Sitosterolemia 1
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Carotid a... OMIM:210250
Acatalasemia
Arteriosclerosis, Reduced catalase level ORPHA:926
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis OMIM:610842
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode ORPHA:199354
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Chronic active hepatitis,... OMIM:203800
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Flynn-Aird Syndrome
Atherosclerosis ORPHA:2047
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Stroke, Hypercholesterolemia, Coro... OMIM:615812
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Preco... ORPHA:280365
Niemann-Pick Disease, Type C2
CNS foam cells, Bone-marrow foam cells, Low cholesterol esterification rate, Jaundice, Prolonged ... OMIM:607625
Cog4-Cdg
Elevated hepatic transaminase, Hypercholesterolemia, Elevated circulating alkaline phosphatase co... ORPHA:263501
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Hyperlipidemia, Arteriosclerosis of small cerebral arteries, Stroke, I... ORPHA:1830
Werner Syndrome
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... OMIM:277700
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Precocious atherosclerosis ORPHA:230839
Secondary Short Bowel Syndrome
Low plasma citrulline, Atherosclerosis, Abnormal blood ion concentration, Steatorrhea ORPHA:95427
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Immunodeficiency 97 With Autoinflammation
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... OMIM:619802
Hutchinson-Gilford Progeria Syndrome
Precocious atherosclerosis, Premature coronary artery atherosclerosis OMIM:176670
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... ORPHA:747
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hyper... OMIM:151660
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Precocious atherosclerosis, Hyperlipidemia, Jaundice, Increased circulating... ORPHA:444490
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hypocholesterolemia, ... ORPHA:31150
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia, Abnormal circul... ORPHA:79237
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Atherosclerosis ORPHA:93598
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis ORPHA:79084
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Hyperlipoproteinemia, Type I
Hyperlipidemia, Jaundice, Lactescent serum, Increased circulating chylomicron concentration, Hype... OMIM:238600
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Ischemic stroke, Coronary artery atherosclerosis, Moyamoya phenomenon ORPHA:280679
Werner Syndrome
Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:902
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Pseudoxanthoma Elasticum
Vascular dilatation, Arterial stenosis, Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:758
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesio... ORPHA:363618
Gapo Syndrome
Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:2067
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Hypercholesterolemia, Intrahepatic cholestasis, Elevated gamma-glu... ORPHA:69663
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Coronary artery atherosclerosis, Hypocalcem... ORPHA:36913
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta OMIM:208060
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... ORPHA:565612
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Stroke, Coronary artery atherosclerosis OMIM:264800
Laron Syndrome
Hypercholesterolemia ORPHA:633
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Intrahepatic cholestasi... OMIM:607330
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Prominent superficial veins, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Schimke Immunoosseous Dysplasia
Arteriosclerosis, Stroke, Transient ischemic attack OMIM:242900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Hypercholesterolemia, Ischemic stroke, Cerebral hemorrhage ORPHA:90065
Gaisböck Syndrome
Hypertriglyceridemia, Peripheral arterial stenosis, Hyperproteinemia, Increased circulating renin... ORPHA:90041
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... OMIM:300845
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... ORPHA:264580
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Atherosclerosis OMIM:614008
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Coronary artery atherosclerosis ORPHA:439232
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Cockayne Syndrome
Elevated hepatic transaminase, Retinal arteriolar constriction, Hyperuricemia, Vascular calcifica... ORPHA:191
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Alkaptonuria
Coronary artery calcification, Atherosclerosis ORPHA:56
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Coronary artery atherosclerosis ORPHA:785
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Premature coronary artery atherosclerosis,... ORPHA:909
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Coronary artery atherosclerosis ORPHA:435638
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Immunodeficiency 47
Elevated hepatic transaminase, Decreased circulating copper concentration, Elevated circulating a... OMIM:300972
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Elevated hepatic transaminase, Hypertri... ORPHA:470
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Tetralogy of Fallot, Coarctation of aorta, S... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis ORPHA:220295
Niemann-Pick Disease Type C
Bone-marrow foam cells, Low cholesterol esterification rate, Jaundice, Foam cells, Hepatic failure ORPHA:646
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia OMIM:619471
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... ORPHA:90674
Hutchinson-Gilford Progeria Syndrome
Transient ischemic attack, Intracranial hemorrhage, Stroke, Carotid artery occlusion, Atheroscler... ORPHA:740
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Abnormal B-type natriu... ORPHA:66529
Atypical Werner Syndrome
Prominent superficial veins, Hypertriglyceridemia, Abnormal cerebral vascular morphology, Periphe... ORPHA:79474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hyperlipidemia, Xant... ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Subdural hemorrhage, Aortic root aneurysm, Stroke, Vascular calcif... ORPHA:90324
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Conjugated hy... OMIM:619534
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary arteriovenous malformation OMIM:606721
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Hypercholesterolemia ORPHA:273
Amyotrophic Lateral Sclerosis
ORPHA:803

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 Pon1

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 Pon1.

No publications found that use IMPC mice or data for Pon1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pon1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pon1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pon1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pon1tm199218(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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