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
abnormal embryo size Piezo2em2(IMPC)J HOM E18.5 0.00
increased vertical activity Piezo2em2(IMPC)J HET Early adult 7.33×10-06
preweaning lethality, complete penetrance Piezo2em1(IMPC)J HOM   Early adult 0.00
increased circulating triglyceride level Piezo2em2(IMPC)J HET Early adult 8.10×10-05
preweaning lethality, complete penetrance Piezo2em2(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Electrocardiogram (ECG)

Waveform Image

16 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
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia OMIM:610717
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Ataxia, Hypertriglyceridemia ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance OMIM:604484
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:267700
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... ORPHA:98855
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... ORPHA:98863
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
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:435660
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Smith-Magenis Syndrome
Attention deficit hyperactivity disorder, Hypercholesterolemia, Hypertriglyceridemia, Gait distur... ORPHA:819
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:603553
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Difficulty walking, Ataxia, Abnormal circulating creatine kinase concentration ORPHA:98907
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... OMIM:615980
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Alstrom Syndrome
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:203800
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:79240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:444490
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:613327
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Ataxia, Hypertriglyceridemia ORPHA:158048
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Inability to walk, A... ORPHA:167
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... ORPHA:470
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Abnormal circulating lipid concentration, Ataxia, Hypertriglyceridemia, Increased... ORPHA:77293
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hypertriglyceridemia, Hyp... ORPHA:90041
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
H Syndrome
Hypertriglyceridemia ORPHA:168569
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration ORPHA:98908
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysdiadochokinesis OMIM:606721
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hypertriglyceridemia OMIM:619573
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Hypertriglyceridemia OMIM:264090
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Decreased HDL choles... OMIM:256040
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia OMIM:269700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H... ORPHA:189427
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Ataxia, Hypertriglyceridemia ORPHA:3455
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia ORPHA:567983
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Alström Syndrome
Hyperlipidemia, Ataxia, Hypertriglyceridemia ORPHA:64
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration 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 5
OMIM:108145
Gordon Syndrome
ORPHA:376
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
ORPHA:1154
Arthrogryposis, Distal, Type 3
OMIM:114300

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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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