banner
Genes Phenotypes Help, News, Blog

Gene: Piezo1 MGI:3603204

Log in to follow

Gene Summary

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

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Piezo1tm1b(KOMP)Wtsi HET E12.5 0.00
abnormal placenta size Piezo1tm1b(KOMP)Wtsi HET E12.5 0.00
increased circulating alanine transaminase level Piezo1tm1b(KOMP)Wtsi HET Early adult 2.38×10-29
preweaning lethality, complete penetrance Piezo1tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal embryo size Piezo1tm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic growth retardation Piezo1tm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal placenta size Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
decreased locomotor activity Piezo1tm1b(KOMP)Wtsi HET Early adult 4.24×10-07
abnormal limb bud morphology Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal embryo size Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
pale yolk sac Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
pallor Piezo1tm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal urinary bladder morphology Piezo1tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Interactive Embryo Viewer Interactive Embryo Viewer
OPT E9.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Gross Morphology Embryo E9.5

Images

4 Images

View 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 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Lymphatic Malformation 6
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff... OMIM:616843
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Pulmonary venous hypertension, Intermi... ORPHA:3202
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P... ORPHA:60041
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Hydrops fetalis, Growth delay, Chylopericardium, Pulmonic stenosis ORPHA:2414
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Breath-Holding Spells
Pallor OMIM:607578
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor, Syndactyly OMIM:615631
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr... ORPHA:363705
Optic Atrophy 1
Pallor OMIM:165500
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor OMIM:613561
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Atrial septal defect, Short stature... OMIM:620070
Hemoglobin D Disease
Pallor ORPHA:90039
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... OMIM:115197
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenital Disorder Of Glycosylation, Type Il
Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect OMIM:608776
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor ORPHA:49827
Hypokalemic Tubulopathy And Deafness
Ataxia, Renal salt wasting, Increased circulating renin level OMIM:619406
Retinitis Pigmentosa 51
Pallor, Polydactyly OMIM:613464
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion ORPHA:36412
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe... ORPHA:292
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Lymphedema, Mild postnatal growth retardation, Pleural effusion, Ventricular se... OMIM:235510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s... OMIM:618775
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Aicardi-Goutieres Syndrome 9
Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pericardial effusion, Ede... OMIM:619487
Myopathic Ehlers-Danlos Syndrome
Pallor, Talipes equinovarus, Adducted thumb, Congenital finger flexion contractures, Tapered finger ORPHA:536516
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Fanconi Anemia, Complementation Group I
Short 1st metacarpal, Absent thumb, Short thumb, Intrauterine growth retardation, Pallor, Hypopla... OMIM:609053
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Cardiomyopathy, Biventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Periph... OMIM:261740
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Pleural effusion ORPHA:79126
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Pediatric Systemic Lupus Erythematosus
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:93552
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Irida Syndrome
Pallor ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe... ORPHA:26793
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Edema, Pericarditis OMIM:212065
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Aymé-Gripp Syndrome
Postnatal growth retardation, Short stature, Pericardial effusion, Patent ductus arteriosus, Peri... ORPHA:1272
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Poems Syndrome
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:2905
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema ORPHA:199241
Myelofibrosis
Purpura, Pallor OMIM:254450
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, Birth length l... OMIM:139210
Retinitis Pigmentosa 75
Pallor OMIM:617023
Cold Agglutinin Disease
Pallor ORPHA:56425
Q Fever
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... ORPHA:781
Alg9-Cdg
Rhizomelia, Abnormal heart morphology, Oligohydramnios, Ventricular septal defect, Atrial septal ... ORPHA:79328
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Elliptocytosis 1
Pallor OMIM:611804
Senior-Loken Syndrome 8
Pallor, Polydactyly OMIM:616307
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Mild postnatal growth retardation, Pericardial effusion, Hydrop... ORPHA:2136
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Tay-Sachs Disease
Pallor OMIM:272800
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pericardial effusi... OMIM:615846
American Trypanosomiasis
Pallor ORPHA:3386
Dominant Beta-Thalassemia
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Delayed puberty, Growth delay ORPHA:231226
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Hereditary Spherocytosis
Growth delay, Skin ulcer, Pallor ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Major
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones, Delayed puberty, Growth delay ORPHA:231214
Letterer-Siwe Disease
Pallor OMIM:246400
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Intrauterine growth retardation, Anemic pallor, Absent radius, Short s... OMIM:227645
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion ORPHA:73224
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Lymphangioleiomyomatosis
Ascites, Chylothorax, Chylopericardium, Lymphedema ORPHA:538
Diamond-Blackfan Anemia 1
Absent thumb, Short thumb, Intrauterine growth retardation, Pallor, Partial duplication of thumb ... OMIM:105650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Aregenerative Anemia
Pallor ORPHA:101096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Adenohypophysitis
Pallor ORPHA:95512
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Anemic pallor, Absent radius, Short stature, Complete duplication of t... OMIM:600901
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Panhypophysitis
Pallor ORPHA:95513
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Gitelman Syndrome
Pericardial effusion, Delayed puberty ORPHA:358
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Anemic pallor, Absent radius, Short stature, Complete duplication of t... OMIM:227650
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Fumarase Deficiency
Pallor OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Crimean-Congo Hemorrhagic Fever
Ascites, Pericardial effusion, Myocarditis ORPHA:99827
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Esophageal Atresia
Growth delay, Clinodactyly, Pallor ORPHA:1199
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Intrauterine growth retardation, Genu val... OMIM:619488
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Anemi... OMIM:227646
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Pericardial effusion, Cardiomegaly, Polyhydramnios, Hydrops fet... ORPHA:51608
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Pallor, Partial duplication of thumb phalanx, Triphalangeal thumb, Sho... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Growth delay, Abnormal metaphysis morphology, Pallor ORPHA:667
Idiopathic Hypereosinophilic Syndrome
Pallor, Clubbing, Swelling of proximal interphalangeal joints ORPHA:3260
Neuroblastoma
Anemic pallor ORPHA:635
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Von Hippel-Lindau Disease
Pallor ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis ORPHA:79318
Goodpasture Syndrome
Pallor OMIM:233450
Lymphatic Malformation 6
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff... OMIM:616843
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Pulmonary venous hypertension, Intermi... ORPHA:3202
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452

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 19 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Piezo1 expression in chondrocytes controls endochondral ossification and osteoarthritis development. Bone research (February 2024) Piezo1tm1c(KOMP)Wtsi PMC10891122
The mechanosensitive ion channel PIEZO1 promotes satellite cell function in muscle regeneration. Life science alliance (November 2022) Piezo1tm1c(KOMP)Wtsi Piezo1tm1a(KOMP)Wtsi PMC9711862
Mechanosensation by endothelial PIEZO1 is required for leukocyte diapedesis. Blood (July 2022) Piezo1tm1a(KOMP)Wtsi 35443048
A Piezo1/KLF15/IL-6 axis mediates immobilization-induced muscle atrophy. The Journal of clinical investigation (May 2022) Piezo1tm1c(KOMP)Wtsi PMC9159676
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
Mechanical sensing protein PIEZO1 regulates bone homeostasis via osteoblast-osteoclast crosstalk. Nature communications (January 2020) Piezo1tm1a(KOMP)Wtsi PMC6962448
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter