Gene Summary

Name:
piezo-type mechanosensitive ion channel component 2
Synonyms:
Fam38b,  9430028L06Rik,  9030411M15Rik,  Fam38b2,  Piezo2

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
preweaning lethality, complete penetrance Piezo2em1(IMPC)J HOM   Early adult 0.00
increased circulating triglyceride level Piezo2em2(IMPC)J HET Early adult 7.90×10-05
preweaning lethality, complete penetrance Piezo2em2(IMPC)J HOM   Early adult 0.00
abnormal embryo size Piezo2em2(IMPC)J HOM E18.5 0.00
increased vertical activity Piezo2em2(IMPC)J HET Early adult 7.33×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

MicroCT E18.5

Embryo reconstruction

13 Images

Electrocardiogram (ECG)

Waveform Image

19 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

12 Images

Human diseases caused by Piezo2 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 Piezo2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Marden-Walker Syndrome
Attention deficit hyperactivity disorder ORPHA:2461
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Elevated circulating creatine kinase concentration, Inability to walk, Broad-based gait OMIM:617146
Marden-Walker Syndrome
Intrauterine growth retardation OMIM:248700
Gordon Syndrome
ORPHA:376
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
ORPHA:1154
Arthrogryposis, Distal, Type 5
OMIM:108145
Arthrogryposis, Distal, Type 3
OMIM:114300

The table below shows human diseases predicted to be associated to Piezo2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:71529
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Polyphagia OMIM:617885
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Dysdiadochokinesis, Increased L... OMIM:277460
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Motor stereotypy, Onychotilloman... OMIM:182290
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Overfriendliness, Aggressive behavior OMIM:618010
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance OMIM:604484
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98855
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Smith-Magenis Syndrome
Hypertriglyceridemia, Gait disturbance, Motor stereotypy, Attention deficit hyperactivity disorde... ORPHA:819
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:261
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:66628
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Polyphagia ORPHA:179494
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... OMIM:603553
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Difficulty walking, Ataxia, Abnormal circulating creatine kinase concentration ORPHA:98907
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Dysphagia, Elevated circulating creatine kinase concentration OMIM:613327
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Microtriplication 11Q24.1
Bruxism, Hyperlipidemia ORPHA:289522
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Steatorrhea, Elev... ORPHA:470
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polyphagia, Attention deficit hype... OMIM:176270
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:610717
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia ORPHA:158048
Methanol Poisoning
Addictive alcohol use, Hyperlipidemia ORPHA:31825
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Gait disturbance, Hyponatremia, Ataxia,... ORPHA:167
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:77293
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
H Syndrome
Hypertriglyceridemia ORPHA:168569
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration ORPHA:98908
19P13.12 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Hyperlipidemia ORPHA:254346
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric... OMIM:203800
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Dysdiadochokinesis, Gait ataxia, Dysphagia, Hypercholesterolemia, Dysmetria OMIM:606721
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Polyphagia OMIM:269700
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Polyphagia OMIM:608594
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... OMIM:256040
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Truncal ataxia, Dysphagia OMIM:264090
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Ataxia ORPHA:110
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper... ORPHA:189427
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Truncal ataxia, Ataxia ORPHA:3455
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Polyphagia, Compulsive behaviors, Hyponatremia, Self-injurious behavi... ORPHA:293987
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Fabry Disease
Anorexia, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia OMIM:241080
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Woodhouse-Sakati Syndrome
Choreoathetosis, Hyperlipidemia ORPHA:3464
Alström Syndrome
Hypertriglyceridemia, Hyperlipidemia, Ataxia, Polyphagia ORPHA:64
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Marden-Walker Syndrome
Attention deficit hyperactivity disorder ORPHA:2461
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Elevated circulating creatine kinase concentration, Inability to walk, Broad-based gait OMIM:617146
Marden-Walker Syndrome
Intrauterine growth retardation OMIM:248700
Arthrogryposis, Distal, Type 3
OMIM:114300
Arthrogryposis, Distal, Type 5
OMIM:108145
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
ORPHA:1154
Gordon Syndrome
ORPHA:376

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 Piezo2

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 Piezo2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PIEZO2 and perineal mechanosensation are essential for sexual function. Science (New York, N.Y.) (August 2023) Piezo2tm1c(KOMP)Wtsi 37616369
Decoding Cellular Mechanisms for Mechanosensory Discrimination. Neuron (November 2020) Piezo2tm1c(KOMP)Wtsi 33186546
PIEZO2 in sensory neurons and urothelial cells coordinates urination. Nature (October 2020) Piezo2tm1c(KOMP)Wtsi 33057202
PIEZO2 mediates injury-induced tactile pain in mice and humans. Science translational medicine (October 2018) Piezo2tm1a(KOMP)Wtsi 30305456

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MGI Allele Allele Type Produced
Piezo2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Piezo2em1(IMPC)J Exon Deletion Mice
Piezo2em2(IMPC)J Exon Deletion Mice
Piezo2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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