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Gene: Pctp MGI:107375

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

phosphatidylcholine transfer protein

Synonyms:

PC-TP, StarD2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Pctp 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.

Human diseases associated with Pctp (0 diseases)
Human diseases predicted to be associated with Pctp (194 diseases)

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

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

Disease	Matching phenotypes	Source
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration, Cholelithiasis	ORPHA:79278
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Splenomegaly, Cholelithiasis	OMIM:224100
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Pancreatic Colipase Deficiency	Steatorrhea, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis	OMIM:235700
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis	OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Spherocytosis, Type 1	Hyperbilirubinemia, Jaundice, Splenomegaly, Cholelithiasis	OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Unconjugated hyperbilirubinemi...	OMIM:266200
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis	ORPHA:848
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas	ORPHA:3032
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentratio...	OMIM:194380
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Incr...	OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal...	ORPHA:79234
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased ci...	ORPHA:171876
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Glycogen Storage Disease Xii	Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Hyperbilirubinemia, Elevated c...	OMIM:611881
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Gracile Syndrome	Increased circulating iron concentration, Increased circulating ferritin concentration, Increased...	OMIM:603358
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Elev...	OMIM:614886
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis	OMIM:160900
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Sialuria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple...	ORPHA:3166
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper...	OMIM:214900
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis, Biliary tract o...	ORPHA:77259
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami...	ORPHA:30391
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Intermittent jaundice, Portal vein thrombosis, Increased total bilirubin, Splenom...	ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 59	Hyperalaninemia, Cholelithiasis	OMIM:620646
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr...	ORPHA:171
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	ORPHA:822
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis, Hypergalactosemia	ORPHA:570422
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly, Neonatal...	ORPHA:288
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port...	OMIM:605814
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia...	ORPHA:79301
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Alpha-Thalassemia	Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism	ORPHA:846
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly	OMIM:603903
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Somatostatinoma	Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfun...	ORPHA:97283
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis	OMIM:619273
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Jaundice, Intrahepatic cholestasis, Cirrhosis, Hepatomegaly, Elevated circulating he...	OMIM:607765
Hemochromatosis, Neonatal	Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona...	OMIM:231100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Elevated circulating creatine kinase concentration, Cholelithiasis	OMIM:618775
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality...	ORPHA:1414
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Absent...	OMIM:615710
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Sickle Cell Anemia	Jaundice, Cholelithiasis, Splenic infarction, Unconjugated hyperbilirubinemia, Abnormality of the...	ORPHA:232
Cerebrotendinous Xanthomatosis	Xanthelasma, Abnormal circulating cholesterol concentration, Cholelithiasis	OMIM:213700
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis	OMIM:615512
Acth Deficiency, Isolated	Jaundice, Decreased circulating cortisol level, Cholestasis	OMIM:201400
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta...	ORPHA:131
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Hypoparathyroidism, Cholelithiasis, Asplenia	OMIM:240300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cryptorchidism, Cholelithiasis	OMIM:300534
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Hepatomegaly, Increased serum bile acid concentration, Cho...	OMIM:618268
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:69665
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenome...	OMIM:263700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Portal hypertension, Splenomegaly, Nodular regenerative hyperplasia of liver, Cholecystitis, Hepa...	OMIM:620367
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Elevated circulating creatine kinase concentration, Biliary atresia	ORPHA:565899
Meckel Syndrome, Type 6	Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis	OMIM:612284
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Lathosterolosis	Bilobate gallbladder, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated circulating alanine ...	OMIM:607330
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Biliary tract neoplasm, Cholecystitis, Extrahep...	ORPHA:100086
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis	ORPHA:464738
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Reduced circulating alp...	ORPHA:60
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration	OMIM:222765
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Cholestasis, Biliary cirrhosis, Elevated circulating aspartate aminotransferase con...	OMIM:620454
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Pheochromocytoma, Nodular goiter, Primary hyperparathyroidism	ORPHA:1332
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Gaucher Disease	Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis, Elevated circul...	ORPHA:355
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia	OMIM:207750
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio	OMIM:302060
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis	ORPHA:97297
Triploidy	Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas, Hepatomegaly	ORPHA:3376
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology	ORPHA:512
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged polycystic ovaries, Pancreatic a...	ORPHA:2869
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:480520
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Hypoamylasemia, Pancreatic aplasia, Reduced C-peptide level	ORPHA:556955
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Abnormal mesentery morphology, Cryptorchidism	ORPHA:2075
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis	ORPHA:909
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism	ORPHA:83617
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	ORPHA:98908
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Hepatic fibrosis	ORPHA:2072
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:273
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis...	ORPHA:774
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Splenomegaly, Cryptor...	ORPHA:567
Rett Syndrome	Hyperammonemia, Increased serum pyruvate, Cholecystitis	ORPHA:778
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Digeorge Syndrome	Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovarian cyst, Spl...	OMIM:188400
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Asplenia	ORPHA:210122
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,...	OMIM:267010
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Williams Syndrome	Abnormal circulating lipid concentration, Cholelithiasis, Elevated circulating creatine kinase co...	ORPHA:904
Vacterl/Vater Association	Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism	ORPHA:887
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hypocalcemia	OMIM:300712
Q Fever	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Spleno...	ORPHA:781
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Alkaptonuria	Black pigment gallstones	ORPHA:56
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperbilirubinemia, Cryptorchidism, Hypocalcemia	ORPHA:163979
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Trisomy 8P	Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Autosomal Recessive Polycystic Kidney Disease	Jaundice, Cholangitis, Increased serum bile acid concentration, Periportal fibrosis, Cholestasis,...	ORPHA:731
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine...	ORPHA:2255
Hardikar Syndrome	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	OMIM:301068
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Cholecystitis, Viral hepatitis, Liver abscess	ORPHA:183675
Igg4-Related Kidney Disease	Decreased liver function, Pancreatitis, Sclerosing cholangitis, Elevated circulating C-reactive p...	ORPHA:449395
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder	OMIM:617925
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Bile duct proliferation, Polycystic liver disease, Conjugated hyperbilirubinemia, Hepat...	OMIM:208500
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Trisomy 10P	Absent gallbladder	ORPHA:171929
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Listeriosis	Jaundice, Liver abscess, Splenic abscess, Peritonitis, Hepatic granulomatosis, Cholecystitis	ORPHA:533
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia	OMIM:600001
Kawasaki Disease	Jaundice, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hepatitis, Chol...	ORPHA:2331
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy...	OMIM:619991
Smith-Lemli-Opitz Syndrome	Elevated circulating 7-dehydrocholesterol concentration, Abnormality of the gallbladder, Cryptorc...	ORPHA:818
Zttk Syndrome	Absent gallbladder	OMIM:617140
Mosaic Trisomy 9	Cryptorchidism, Abnormal liver lobulation, Asplenia	ORPHA:99776
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abdominal situs inversus, Cryptorchidism	ORPHA:280
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Tetrasomy 9P	Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism	ORPHA:3310
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:613658
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Parotitis, Acute pancreatitis, Elevated circulating creatine kinase conce...	ORPHA:99827
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit...	OMIM:613610
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Cryptorchidism, Pancreatitis, Splenic cyst	OMIM:620371
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder	ORPHA:500150
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S...	OMIM:619534
Peters-Plus Syndrome	Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism	OMIM:261540
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:619525
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Elevated amniotic fluid alpha-...	OMIM:249000
Pmm2-Cdg	Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, In...	ORPHA:79318

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 Pctp

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 Pctp.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pctp^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pctp^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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