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Gene: Ppp4c MGI:1891763

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Gene Summary

Name:
protein phosphatase 4, catalytic subunit
Synonyms:
PPX,  1110002D08Rik

Order Alleles

IMPC Data Collections

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
increased circulating bilirubin level Ppp4cem1(IMPC)Ics HET   Early adult 2.40×10-05
increased heart weight Ppp4cem1(IMPC)Ics HET Early adult 1.26×10-09
abnormal contextual conditioning behavior Ppp4cem1(IMPC)Ics HET Early adult 9.12×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Human diseases caused by Ppp4c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp4c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia OMIM:179700
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Crigler-Najjar Syndrome Type 1
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... OMIM:620010
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:237800
Malaria
Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... OMIM:616278
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration OMIM:243300
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly OMIM:214900
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:619232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spherocytosis, Type 4
Splenomegaly, Hyperbilirubinemia OMIM:612653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... ORPHA:766
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Harderoporphyria
Splenomegaly, Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatome... OMIM:618892
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:605479
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Spherocytosis, Type 1
Splenomegaly, Hyperbilirubinemia OMIM:182900
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Spherocytosis, Type 2
Splenomegaly, Hyperbilirubinemia OMIM:616649
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:235555
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Hyperbilirubinemia OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin ORPHA:90037
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly ORPHA:234
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:616689
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:601847
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Hepatoportal Sclerosis
Cognitive impairment, Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:185000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:211600
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:619662
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de... ORPHA:1667
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Double outlet rig... OMIM:614886
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Hepatomegaly, Ventricular septal defect, Right ventricular hypertr... OMIM:613404
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem... OMIM:613673
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:73272
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... OMIM:608836
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:293939
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Hereditary Elliptocytosis
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bil... OMIM:227810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... OMIM:208085
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... OMIM:603553
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:224120
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilir... OMIM:300908
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... ORPHA:3008
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperbilirubinemi... OMIM:611881
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con... OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatomegaly ORPHA:348
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:71275
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Deme... OMIM:277900
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hyper... ORPHA:567983
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Elevated ci... OMIM:614866
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Short attention span, Ventricular septal defect, Left atrial enlargem... OMIM:619991
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Atte... ORPHA:90674
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fumarase Deficiency
Perimembranous ventricular septal defect, Hyperbilirubinemia OMIM:606812
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology ORPHA:464321
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Caroli Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating alpha-fetoprotein concentration... ORPHA:53035
Reynolds Syndrome
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613471
Caroli Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia ORPHA:480520
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly ORPHA:30391
Senior-Boichis Syndrome
Hepatosplenomegaly, Attention deficit hyperactivity disorder, Increased total bilirubin ORPHA:84081
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Atrial septal defect, Left ventricular hypertroph... OMIM:613610
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short attention span, Ventricular septal defect, Bicuspid aortic valve, Diminished ability to con... OMIM:619475
Fructose Intolerance, Hereditary
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hyperbilirubinemia OMIM:557000
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Partial anomalous pulmonary venous return,... OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin... OMIM:619534
Degcags Syndrome
Hepatomegaly, Ventricular septal defect, Hepatosplenomegaly, Hyperbilirubinemia, Pulmonic stenosi... OMIM:619488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Progressive neurologic deterioration, Muscular ventricular septal defe... OMIM:210710
Neurooculorenal Syndrome
Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve prolapse, Tetralogy of Fallot with pulm... OMIM:620305
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Patent foramen ovale, Unconjugated hyperbilirubinemia, Right ventricular hy... OMIM:620186
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:79277
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800

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 Ppp4c

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 Ppp4c.

No publications found that use IMPC mice or data for Ppp4c.

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MGI Allele Allele Type Produced
Ppp4ctm295624(L1L2_gt0_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppp4cem1(IMPC)Ics Deletion Mice
Ppp4ctm295624(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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