Gene Summary

Name:
piezo-type mechanosensitive ion channel component 1
Synonyms:
Fam38a,  Piezo1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Piezo1tm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal urinary bladder morphology Piezo1tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Piezo1tm1b(KOMP)Wtsi HOM   Early adult 0.00
pallor Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal limb bud morphology Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
increased circulating alanine transaminase level Piezo1tm1b(KOMP)Wtsi HET Early adult 7.43×10-44
abnormal embryo size Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal embryo size Piezo1tm1b(KOMP)Wtsi HET E12.5 0.00
increased circulating bilirubin level Piezo1tm1b(KOMP)Wtsi HET Early adult 5.44×10-06
abnormal embryo size Piezo1tm1b(KOMP)Wtsi HOM E9.5 0.00
decreased locomotor activity Piezo1tm1b(KOMP)Wtsi HET Early adult 2.51×10-06
pale yolk sac Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal placenta size Piezo1tm1b(KOMP)Wtsi HET E12.5 0.00
abnormal placenta size Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

OPT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E9.5

Images

4 Images

Human diseases caused by Piezo1 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 Piezo1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Lymphatic Malformation 6
Facial edema, Atrial septal defect, Genital edema, Short stature, Chylothorax, Nonimmune hydrops ... OMIM:616843

The table below shows human diseases predicted to be associated to Piezo1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Rotor Syndrome
Bilirubinuria, Conjugated hyperbilirubinemia, Porphyrinuria, Hyperbilirubinemia ORPHA:3111
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Malaria
Gait imbalance, Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyper... ORPHA:673
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concent... OMIM:620010
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Retinitis Pigmentosa 60
Pallor OMIM:613983
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Optic Atrophy 9
Pallor OMIM:616289
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts ORPHA:2924
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Renal insufficiency ORPHA:890
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Harderoporphyria
Increased circulating ferritin concentration, Increased urinary porphobilinogen, Increased urine ... OMIM:618892
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Retinitis Pigmentosa 70
Pallor OMIM:615922
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Saccharopinuria
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Hyperlysinuria, Gait ataxia, Abnormali... ORPHA:3124
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Ataxia, Myoglobinuria, Hyperbilirubinemia ORPHA:713
Breath-Holding Spells
Pallor OMIM:607578
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy ORPHA:95717
Hypermanganesemia With Dystonia 1
Bradykinesia, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increased total iron binding ca... OMIM:613280
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... ORPHA:766
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Glutaric Acidemia Type 3
Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme le... ORPHA:35706
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites ORPHA:2414
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... ORPHA:1041
Retinitis Pigmentosa 73
Pallor OMIM:616544
Optic Atrophy 1
Pallor OMIM:165500
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Retinitis Pigmentosa 27
Pallor OMIM:613750
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria OMIM:232800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Lower eyelid edema, Aortic valve stenosis, Short sta... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema OMIM:608776
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Growth delay, Syndactyly, Short stature OMIM:615631
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia ORPHA:234
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90037
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Lethargy, Abnormal circulating thyroglobulin level ORPHA:95716
Spastic Paraplegia 29, Autosomal Dominant
Nocturia, Urinary urgency, Urinary hesitancy, Neonatal hyperbilirubinemia, Urinary incontinence OMIM:609727
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Nephrotic syndrome OMIM:269920
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Conjugated hy... ORPHA:79303
Liver Failure, Infantile, Transient
Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Hypoalbuminemia, Lacti... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Hemoglobin D Disease
Pallor ORPHA:90039
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... OMIM:267700
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Wolcott-Rallison Syndrome
Chronic kidney disease, Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hypoalbuminemia, ... ORPHA:1667
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Muscular ventricular septal defect,... OMIM:115197
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... OMIM:608836
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Short stature ORPHA:49827
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Conjugated hyperbilirubinemia, Pr... OMIM:613404
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90036
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion, Fetal ascit... ORPHA:292
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Hypocomplementemic Urticarial Vasculitis
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion ORPHA:36412
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron ORPHA:98870
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Spina bifida occulta, Ventricular septal... OMIM:235510
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... OMIM:618775
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion ORPHA:231111
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Relapsing Fever
Elevated circulating C-reactive protein concentration, Hematuria, Increased total bilirubin, Elev... ORPHA:91547
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Edema, Pericarditis, Ascites, Intrauterine growth retardation, Peri... OMIM:619487
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Acute kidney injury, Elevated circulating creatinine concentration, Hyper... ORPHA:542323
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Hyperbilirubinemia, Elevated circulating long chain fatty acid concent... OMIM:614886
Pyruvate Carboxylase Deficiency
Ataxia, Hyperlysinemia, Lacticaciduria, Tip-toe gait, Hyperammonemia, Increased serum pyruvate, H... ORPHA:3008
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Primary Intestinal Lymphangiectasia
Pleural effusion, Edema, Generalized edema, Growth delay, Ascites, Pericardial effusion ORPHA:90362
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia OMIM:607765
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
Fanconi Anemia, Complementation Group I
Absent thumb, Short stature, Pallor, Hypoplasia of the radius, Short 1st metacarpal, Intrauterine... OMIM:609053
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, Adducted thumb, Pallor, Tapered finger, Congenital finger flexion contractures ORPHA:536516
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Micropenis, Hypospadias, Unconjugated hyperbilirubinemia, Reduced haptoglobin... OMIM:613673
Retinitis Pigmentosa 51
Pallor OMIM:613464
Gaucher Disease Type 1
Pedal edema, Abnormal myocardium morphology, Delayed puberty, Growth delay, Ascites, Pericardial ... ORPHA:77259
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Abetalipoproteinemia
Broad-based gait, Ataxia, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, ... ORPHA:14
Myelofibrosis
Pallor, Purpura OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hypertriglyceridemia, Incr... OMIM:603553
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Aminoaciduria, Reduced renal corticomedullary differentiation, Nephropath... OMIM:208085
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... OMIM:300908
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Lethargy, Increased circulating thyroglobulin level ORPHA:90673
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Edema OMIM:617822
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Glycogen Storage Disease Xii
Hemoglobinuria, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Reduced h... OMIM:611881
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:93552
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Fructose Intolerance, Hereditary
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... OMIM:229600
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Tip-toe gait ORPHA:293939
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Irida Syndrome
Pallor ORPHA:209981
Beta-Thalassemia
Skin ulcer, Pallor ORPHA:848
Fumarase Deficiency
Hyperbilirubinemia, Aminoaciduria OMIM:606812
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pe... ORPHA:26793
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Cardiomyopathy, Edema, Pericarditis, Pericardial effusion OMIM:212065
Hereditary Spherocytosis
Ataxia, Hyperbilirubinemia ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Increased urinary glycerol, Hyperuricemia ORPHA:348
Retinitis Pigmentosa 75
Pallor OMIM:617023
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Aymé-Gripp Syndrome
Short stature, Patent ductus arteriosus, Postnatal growth retardation, Pericarditis, Pericardial ... ORPHA:1272
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Poems Syndrome
Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:2905
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... OMIM:277900
Gaucher Disease Type 3
Aortic valve calcification, Hydrops fetalis, Mitral valve calcification, Abnormal myocardium morp... ORPHA:77261
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Primary Myelofibrosis
Pallor, Purpura, Ecchymosis, Petechiae ORPHA:824
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Cystic Echinococcosis
Renal cyst, Hyperbilirubinemia, Membranous nephropathy ORPHA:400
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion ORPHA:199241
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Myhre Syndrome
Atrial septal defect, Aortic valve stenosis, Short stature, Birth length less than 3rd percentile... OMIM:139210
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Lethargy, Abnormal circulating thyroglobulin l... ORPHA:90674
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Q Fever
Endocarditis, Myocarditis, Pleural effusion, Abnormal heart valve morphology, Pericarditis, Peric... ORPHA:781
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Lethargy, Increased circulating thyroglobulin level OMIM:218700
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Rhizomeli... ORPHA:79328
Cold Agglutinin Disease
Pallor ORPHA:56425
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Elliptocytosis 1
Pallor OMIM:611804
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion, Umbilical hernia ORPHA:536532
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, 3-Methylglutaric aciduria, Hypercalciuria, Complex organic aciduria, Renal Fa... OMIM:557000
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Autoimmune Hepatitis
Glomerulonephritis, Increased total bilirubin ORPHA:2137
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Mirizzi Syndrome
Dark urine, Hyperbilirubinemia ORPHA:521219
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Senior-Loken Syndrome 8
Pallor, Polydactyly OMIM:616307
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Rare Circulatory System Disease
Pallor, Abnormal metatarsal morphology, Abnormality of finger, Abnormal hand morphology ORPHA:98028
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Edema, Oligohydramnios, Intrauterine growth retardation, Pericardial... OMIM:615846
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Hennekam Syndrome
Chylothorax, Mild postnatal growth retardation, Hydrops fetalis, Lymphedema, Ascites, Pericardial... ORPHA:2136
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Decreased seru... ORPHA:447
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Senior-Boichis Syndrome
Chronic kidney disease, Reduced renal corticomedullary differentiation, Increased total bilirubin... ORPHA:84081
Tay-Sachs Disease
Pallor OMIM:272800
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
American Trypanosomiasis
Pallor ORPHA:3386
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... ORPHA:90038
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Caroli Syndrome
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Dominant Beta-Thalassemia
Pallor, Genu valgum, Delayed puberty, Bowing of the long bones, Skin ulcer, Growth delay ORPHA:231226
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Conjugated hyperbilirubinemia ORPHA:168577
Chédiak-Higashi Syndrome
Pleural effusion, Pericardial effusion, Edema ORPHA:167
Lathosterolosis
Horseshoe kidney, Abnormal circulating cholesterol concentration, Hyperbilirubinemia OMIM:607330
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal cyst, Conjugated hyperbilirubinemia, Proteinuria, Renal ... OMIM:208500
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pericardial effusion, Pleural effusion OMIM:108050
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Caroli Disease
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia ORPHA:53035
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Beta-Thalassemia Major
Pallor, Genu valgum, Delayed puberty, Bowing of the long bones, Skin ulcer, Growth delay ORPHA:231214
Letterer-Siwe Disease
Pallor OMIM:246400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Ataxia, Hyperbilirubinemia, Tip-toe gait, Micropenis, Hypospadias, Hematuria, F... OMIM:619475
Childhood Absence Epilepsy
Pallor ORPHA:64280
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion ORPHA:73224
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Dark yellow urine ORPHA:30391
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Hypospadias, Vesicoureteral reflux, Micropenis ORPHA:163956
Hardikar Syndrome
Hyperbilirubinemia, Hydroureter, Bladder exstrophy, Renal insufficiency, Hydronephrosis, Pyelonep... OMIM:301068
Fanconi Anemia, Complementation Group C
Absent thumb, Short stature, Anemic pallor, Short thumb, Complete duplication of thumb phalanx, I... OMIM:227645
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst, Hyperbilirubinemia OMIM:613610
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Hyperbilirubinemia, Enlarged kidney OMIM:300855
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
Degcags Syndrome
Chordee, Chronic kidney disease, Hyperbilirubinemia, Abnormal renal medulla morphology, Hypospadi... OMIM:619488
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Diamond-Blackfan Anemia 1
Absent thumb, Short stature, Pallor, Hypoplasia of the radius, Partial duplication of thumb phala... OMIM:105650
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... ORPHA:79277
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Lymphangioleiomyomatosis
Lymphedema, Chylothorax, Ascites, Chylopericardium ORPHA:538
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Gitelman Syndrome
Pericardial effusion, Delayed puberty ORPHA:358
Aregenerative Anemia
Pallor ORPHA:101096
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Fanconi Anemia, Complementation Group E
Absent thumb, Short stature, Anemic pallor, Short thumb, Complete duplication of thumb phalanx, A... OMIM:600901
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Fanconi Anemia, Complementation Group A
Absent thumb, Short stature, Anemic pallor, Short thumb, Complete duplication of thumb phalanx, A... OMIM:227650
Adenohypophysitis
Pallor ORPHA:95512
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Incontinentia Pigmenti
Pallor, Erythema, Short stature OMIM:308300
Pituitary Apoplexy
Pallor ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Panhypophysitis
Pallor ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Dark urine, Hyperbilirubinemia, Conjugated hyperbil... OMIM:619534
Crimean-Congo Hemorrhagic Fever
Ascites, Pericardial effusion, Myocarditis ORPHA:99827
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Ureteropelvic junction obstruction, Vesicovaginal fistula OMIM:300896
Generalized Arterial Calcification Of Infancy
Hydrops fetalis, Polyhydramnios, Pericardial effusion, Edema, Ventricular hypertrophy, Ascites, M... ORPHA:51608
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Fanconi Anemia, Complementation Group D2
Absent thumb, Short stature, Partial duplication of thumb phalanx, Anemic pallor, Absent radius, ... OMIM:227646
Esophageal Atresia
Pallor, Growth delay, Clinodactyly ORPHA:1199
Blackfan-Diamond Anemia
Absent thumb, Short stature, Pallor, Partial duplication of thumb phalanx, Triphalangeal thumb, G... ORPHA:124
Autosomal Recessive Malignant Osteopetrosis
Pallor, Growth delay, Abnormal metaphysis morphology, Bowing of the long bones ORPHA:667
Idiopathic Hypereosinophilic Syndrome
Pallor, Swelling of proximal interphalangeal joints, Clubbing ORPHA:3260
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Von Hippel-Lindau Disease
Pallor ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Pmm2-Cdg
Lymphedema, Anasarca, Pericarditis, Hypertrophic cardiomyopathy, Pericardial effusion ORPHA:79318
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Lymphatic Malformation 6
Facial edema, Atrial septal defect, Genital edema, Short stature, Chylothorax, Nonimmune hydrops ... OMIM:616843

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 Piezo1

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 Piezo1.

There are 15 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mechanosensation by endothelial PIEZO1 is required for leukocyte diapedesis. Blood (July 2022) Piezo1tm1a(KOMP)Wtsi 35443048
Endothelial Piezo1 sustains muscle capillary density and contributes to physical activity. The Journal of clinical investigation (March 2022) Piezo1tm1c(KOMP)Wtsi PMC8884896
Sphingomyelinase Disables Inactivation in Endogenous PIEZO1 Channels. Cell reports (October 2020) Piezo1tm1c(KOMP)Wtsi PMC7539531
RNA Sensing by Gut Piezo1 Is Essential for Systemic Serotonin Synthesis. Cell (July 2020) Piezo1tm1c(KOMP)Wtsi Piezo1tm1a(KOMP)Wtsi 32640190
Shear stress activates ADAM10 sheddase to regulate Notch1 via the Piezo1 force sensor in endothelial cells. eLife (June 2020) Piezo1tm1c(KOMP)Wtsi PMC7295575
Adipocyte Piezo1 mediates obesogenic adipogenesis through the FGF1/FGFR1 signaling pathway in mice. Nature communications (May 2020) Piezo1tm1b(KOMP)Wtsi PMC7211025
Alveolar Stretch Activation of Endothelial Piezo1 Protects Adherens Junctions and Lung Vascular Barrier. American journal of respiratory cell and molecular biology (February 2020) Piezo1tm1c(KOMP)Wtsi PMC6993544
Piezo1 channel activation mimics high glucose as a stimulator of insulin release. Scientific reports (November 2019) Piezo1tm1a(KOMP)Wtsi PMC6856185
Mechanically activated Piezo1 channels of cardiac fibroblasts stimulate p38 mitogen-activated protein kinase activity and interleukin-6 secretion. The Journal of biological chemistry (October 2019) Piezo1tm1a(KOMP)Wtsi PMC6873183
Endothelial cell Piezo1 mediates pressure-induced lung vascular hyperpermeability via disruption of adherens junctions. Proceedings of the National Academy of Sciences of the United States of America (June 2019) Piezo1tm1c(KOMP)Wtsi PMC6600969
Piezo1 mediates angiogenesis through activation of MT1-MMP signaling. American journal of physiology. Cell physiology (November 2018) Piezo1tm1c(KOMP)Wtsi 30427721
Piezo1 channels sense whole body physical activity to reset cardiovascular homeostasis and enhance performance. Nature communications (August 2017) Piezo1tm1c(KOMP)Wtsi PMC5571199
Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release. The Journal of clinical investigation (October 2016) Piezo1tm1a(KOMP)Wtsi PMC5127677
Piezo1 links mechanical forces to red blood cell volume. eLife (May 2015) Piezo1tm1a(KOMP)Wtsi PMC4456639
Piezo1 integration of vascular architecture with physiological force. Nature (August 2014) Piezo1tm1c(KOMP)Wtsi Piezo1tm1a(KOMP)Wtsi PMC4230887

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MGI Allele Allele Type Produced
Piezo1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Piezo1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Piezo1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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