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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
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Atherosclerosis, Hypertriglyceridemia OMIM:603813
Sitosterolemia 2
Premature coronary artery atherosclerosis, Hypercholesterolemia, Elevated circulating sitosterol ... OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Type IV atherosclerotic lesion, Hy... OMIM:144300
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyce... OMIM:604091
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Premature coronary artery atherosclerosis, Hypocholesterolemia, Decreased ci... OMIM:620058
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased lecithin cholesterol acyl transferase level, Foam cells, Hypertriglyceridemia, Decrease... OMIM:245900
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Premature coronary artery atherosclerosis OMIM:608320
Hypertriglyceridemia 1
Precocious atherosclerosis, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypertriglyceridemia, Hy... OMIM:232700
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Hypertriglyceridemia, Jaundice, Arteriosclerosis ORPHA:75234
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Foam cells with lamellar inclusion bodies, Hypertriglyce... OMIM:607616
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration OMIM:618463
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Increased total bilirubin, Elevated ci... OMIM:619868
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Increased LDL... OMIM:615703
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Aortic atherosclerotic lesion, Increased LDL cholesterol concentration, Coronary arter... ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Coronary artery... OMIM:618620
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Cholesteryl Ester Storage Disease
Elevated gamma-glutamyltransferase level, Hepatic failure, Reduced lysosomal acid lipase activity... OMIM:278000
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Abnormal circulating lipid concentration, Atherosclero... ORPHA:425
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Xanthelasma, Increased ... ORPHA:412
Lcat Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis, Decreased HDL cholesterol concentrati... ORPHA:650
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Premature coronary artery atherosclerosis, Hypertriglyce... OMIM:610947
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Atherosclerosis ORPHA:2724
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypercholesterolemia, Hyp... OMIM:306000
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Tangier Disease
Atherosclerosis, Hypertriglyceridemia, Coronary artery atherosclerosis, Elevated circulating apol... OMIM:205400
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Increased HDL cholesterol concentration, Hypertriglyce... ORPHA:140905
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Fish-Eye Disease
Atherosclerosis, Decreased HDL cholesterol concentration ORPHA:79292
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased LDL cholester... OMIM:616828
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Decreased... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Gm1-Gangliosidosis, Type Iii
Cherry red spot of the macula, Foam cells, Decreased beta-galactosidase activity OMIM:230650
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Coronary artery atherosclerosis OMIM:616833
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Stroke, Subarach... ORPHA:494424
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:619662
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Coronary artery atherosclerosis OMIM:143890
Lipodystrophy, Familial Partial, Type 1
Coronary artery atherosclerosis, Prominent superficial veins, Hypertriglyceridemia OMIM:608600
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Atherosclerosis, Abnormal circulating lipid concentration, Hyperlipoproteinemia ORPHA:1979
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Hyperuricemia, Coronary artery atherosclerosis, Hypert... ORPHA:79083
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Elevated circulating carcinoembryonic antigen concent... ORPHA:264675
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Niemann-Pick Disease, Type C1
CNS foam cells, Foam cells, Fatal liver failure in infancy, Low cholesterol esterification rate, ... OMIM:257220
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Increased LDL cholester... ORPHA:391665
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... ORPHA:275761
Familial Partial Lipodystrophy, Dunnigan Type
Coronary artery atherosclerosis, Atherosclerosis, Hypertriglyceridemia ORPHA:2348
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Elevated circulating aspartate aminotransferase concentration, Foa... OMIM:257200
Sitosterolemia 1
Increased circulating lactate dehydrogenase concentration, Hyperapobetalipoproteinemia, Xanthelas... OMIM:210250
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Lathosterolosis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating lathoste... OMIM:607330
Acatalasemia
Reduced circulating catalase activity, Arteriosclerosis ORPHA:926
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis OMIM:610842
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased LDL cholesterol concentration, Hyperbilirubin... ORPHA:247598
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis ORPHA:1192
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... ORPHA:747
Flynn-Aird Syndrome
Atherosclerosis ORPHA:2047
Secondary Short Bowel Syndrome
Steatorrhea, Abnormal blood ion concentration, Low plasma citrulline, Atherosclerosis ORPHA:95427
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Increased LDL cholesterol concentration, Stroke, Hypercholesterolemia, ... OMIM:615812
Schimke Immuno-Osseous Dysplasia
Atherosclerosis, Transient ischemic attack, Ischemic stroke, Hyperlipidemia, Stroke, Arterioscler... ORPHA:1830
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Elevated circulati... ORPHA:263501
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Atherosclerosis, Hypertriglyceridemia, Coronary artery atherosclerosis, Decreased HDL cholesterol... ORPHA:280365
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Precocious atherosclerosis ORPHA:230839
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Arteriosclerosis, Stroke-like episode ORPHA:199354
Niemann-Pick Disease, Type C2
CNS foam cells, Foam cells, Low cholesterol esterification rate, Prolonged neonatal jaundice, Jau... OMIM:607625
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:277700
Hutchinson-Gilford Progeria Syndrome
Precocious atherosclerosis, Premature coronary artery atherosclerosis OMIM:176670
Immunodeficiency 97 With Autoinflammation
Foam cells, Increased circulating lactate dehydrogenase concentration, Increased circulating ferr... OMIM:619802
Lipodystrophy, Familial Partial, Type 2
Atherosclerosis, Hypertriglyceridemia, Hypercholesterolemia, Prominent superficial veins, Decreas... OMIM:151660
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Increased circulating chylomicron concentration, Decre... OMIM:615947
Galactokinase Deficiency
Abnormal circulating enzyme concentration or activity, Hypercholesterolemia, Hypergalactosemia, I... ORPHA:79237
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Carotid artery stenosis, Hypertriglyceridemia, Acc... ORPHA:31150
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, E... OMIM:620454
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis ORPHA:79084
Primary Hyperoxaluria Type 1
Atherosclerosis, Hyperoxaluria, Stroke, Abnormal circulating enzyme concentration, Calcinosis ORPHA:93598
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Medial calcification of medium-sized arteries, Cerebral h... OMIM:177850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Cerebral hemorrhage ORPHA:280679
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Werner Syndrome
Pulmonary artery stenosis, Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:902
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Chronic active hepatitis, Decreased HDL ... OMIM:203800
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis OMIM:209010
Pseudoxanthoma Elasticum
Abnormal cerebral vascular morphology, Arterial stenosis, Vascular dilatation, Atherosclerosis ORPHA:758
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the pulmonary artery, Coronar... ORPHA:363618
Citrullinemia Type Ii
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased HDL cholester... ORPHA:247585
Gapo Syndrome
Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:2067
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Farber Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cherry red spot of the ... ORPHA:333
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hypercholester... ORPHA:69663
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Pseudoxanthoma Elasticum
Stroke, Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:264800
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Abnormal circulating enzyme concentration or activity, Hyperlipidemia, ... ORPHA:565612
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Coronary artery atherosclerosis, Hypocalcem... ORPHA:36913
Laron Syndrome
Hypercholesterolemia ORPHA:633
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta OMIM:208060
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Congenital Generalized Lipodystrophy
Prominent superficial veins, Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Gaisböck Syndrome
Hyperuricemia, Coronary artery atherosclerosis, Stroke, Hypercholesterolemia, Hypertriglyceridemi... ORPHA:90041
Schimke Immunoosseous Dysplasia
Stroke, Arteriosclerosis, Transient ischemic attack OMIM:242900
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Hypercholesterolemia, Abnormal cerebral artery morphology, Cerebral hemorrhage ORPHA:90065
Primary Biliary Cholangitis
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Abnormal c... ORPHA:186
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Coronary artery atherosclerosis ORPHA:439232
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-like episode, Right aortic... OMIM:300845
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Atherosclerosis OMIM:614008
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:264580
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Cockayne Syndrome
Vascular calcification, Elevated circulating hepatic transaminase concentration, Retinal arteriol... ORPHA:191
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Coronary artery atherosclerosis ORPHA:785
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Precocious atherosclerosis, Abnormal circulating enzyme concentratio... ORPHA:909
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Lysinuric Protein Intolerance
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:470
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Coronary artery atherosclerosis ORPHA:435638
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:300972
Alkaptonuria
Coronary artery calcification, Aortic aneurysm, Atherosclerosis ORPHA:56
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatic failure, Abnormal circulating lipid concentration, Decreased liver function, Decreased HD... ORPHA:77293
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Peripheral pulmonary ar... 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
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia OMIM:619471
Niemann-Pick Disease Type C
Hepatic failure, Foam cells, Low cholesterol esterification rate, Jaundice, Bone-marrow foam cells ORPHA:646
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin conc... ORPHA:90674
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Hutchinson-Gilford Progeria Syndrome
Carotid artery occlusion, Atherosclerosis, Transient ischemic attack, Stroke, Intracranial hemorr... ORPHA:740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Abnormal circulating enzyme concentration or activity, Hyperlipidemia, Hyperuricemia... ORPHA:79259
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Abnormality of the pulmonary artery, Coronary artery ather... ORPHA:79474
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Cockayne Syndrome Type 3
Vascular calcification, Elevated circulating hepatic transaminase concentration, Aortic root aneu... ORPHA:90324
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Increased circulating lactate dehydrogenase concentrat... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Pulmonary artery dilatation, Increased... OMIM:619534
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Lipodystrophy, Familial Partial, Type 7
Pulmonary arteriovenous malformation, Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, 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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