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Gene: Piezo2 MGI:1918781

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Gene Summary

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

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

Download data as:  TSV  XLS

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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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

13 Images

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Electrocardiogram (ECG)

Waveform Image

19 Images

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Auditory Brain Stem Response

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

12 Images

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