Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 23
Synonyms:
PTP-TD14

IMPC Data Collections

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 Ptpn23tm1b(EUCOMM)Hmgu HOM   Early adult 0.000179
increased circulating HDL cholesterol level Ptpn23tm1b(EUCOMM)Hmgu HET Early adult 2.26×10-08
increased circulating cholesterol level Ptpn23tm1b(EUCOMM)Hmgu HET Early adult 2.39×10-12
increased circulating alkaline phosphatase level Ptpn23tm1b(EUCOMM)Hmgu HET Early adult 2.28×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Electrocardiogram (ECG)

Waveform Image

8 Images

Human diseases caused by Ptpn23 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 Ptpn23 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Syndromic Intellectual Disability
ORPHA:528084
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
OMIM:618890

The table below shows human diseases predicted to be associated to Ptpn23 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Laron Syndrome
Hypercholesterolemia ORPHA:633
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Hyperammon... ORPHA:470
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia ORPHA:275761
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
OMIM:618890
Non-Specific Syndromic Intellectual Disability
ORPHA:528084

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 Ptpn23

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 Ptpn23.

No publications found that use IMPC mice or data for Ptpn23.

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MGI Allele Allele Type Produced
Ptpn23tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ptpn23tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ptpn23tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ptpn23tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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