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Gene: Tmed6 MGI:1913519

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Gene Summary

Name:
transmembrane p24 trafficking protein 6
Synonyms:
1810018I24Rik,  1810015P03Rik

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
decreased exploration in new environment Tmed6em1(IMPC)Rbrc HOM Early adult 5.59×10-05
enlarged liver Tmed6em1(IMPC)Rbrc HOM Late adult 0.00
abnormal pancreas morphology Tmed6em1(IMPC)Rbrc HOM Early adult 0.00
small pancreas Tmed6em1(IMPC)Rbrc HOM Early adult 0.00
abnormal liver morphology Tmed6em1(IMPC)Rbrc HOM Late adult 0.00

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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 Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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Gross Pathology and Tissue Collection

Images

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tmed6 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 Tmed6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hyperbilirubinemia, Shunt, Primary
Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen... OMIM:214900
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly OMIM:613977
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613313
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology ORPHA:2470
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Portal hypertension, Biliary tract abnormality, Splenomegaly, ... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Mody
Hepatocellular adenoma, Pancreatic hypoplasia, Exocrine pancreatic insufficiency ORPHA:552
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormality of the spleen ORPHA:1666
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure ORPHA:60
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Klatskin Tumor
Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatomegaly ORPHA:99978
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly ORPHA:100025
Propionic Acidemia
Hepatomegaly ORPHA:35
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a... OMIM:278000
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicul... OMIM:600649
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Hepat... OMIM:602782
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Short... ORPHA:811
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic atrophy, Pancreatic hypo... OMIM:137920
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Splenomegaly, Hepatomegaly OMIM:615631
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Pancreatic hypoplasia ORPHA:99885
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly OMIM:612714
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly OMIM:620296
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Aceruloplasminemia
Elevated hepatic iron concentration, Memory impairment, Abnormal pancreas morphology, Cognitive i... ORPHA:48818
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia ORPHA:261265
Harderoporphyria
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine... ORPHA:2255
Liver Disease, Severe Congenital
Irritability, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen conten... OMIM:619991
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Wolman Disease
Ascites, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75233
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly ORPHA:163596
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Elevated circulating aspartate aminotransferase con... OMIM:620454
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Hepatomegaly OMIM:185000
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism ORPHA:83617
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Myelofibrosis
Hepatomegaly, Splenomegaly OMIM:254450
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, He... ORPHA:294
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carci... ORPHA:231222
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated hepatic iron concentration, Hepatomegaly, Splenomegaly OMIM:615234
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Nephronophthisis 13
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Splenomegaly, Hepatomegaly OMIM:616689
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:618500
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hepatomegaly OMIM:200995
Shwachman-Diamond Syndrome 2
Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:617941
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism OMIM:617052
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly OMIM:603903
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hepatic fibrosis OMIM:601539
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic fibrosis OMIM:232220
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s... OMIM:616263
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Pearson Marrow-Pancreas Syndrome
Macronodular cirrhosis, Pancreatic fibrosis, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:557000
Meckel Syndrome
Accessory spleen, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Cystic liver disease, Pa... ORPHA:564
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Annular pancreas, Cryptorchidism OMIM:227646
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Macronod... ORPHA:699
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pheochromocytoma, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Hepatosplenomegaly, Exocrine pancreatic... OMIM:219700
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hypertension, Biliary hyperplasia... ORPHA:731
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Attention deficit hyperactivity disorder, Annular pancreas, Cryptorchidism OMIM:616975
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Jacobsen Syndrome
Annular pancreas, Cryptorchidism OMIM:147791
Beckwith-Wiedemann Syndrome
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Exocrine pancreatic insuffi... ORPHA:116
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Jacobsen Syndrome
Attention deficit hyperactivity disorder, Annular pancreas, Cryptorchidism ORPHA:2308
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism OMIM:268400
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia OMIM:130650
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis ORPHA:97297
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Biliary atresia, Unilateral cryptorchidism ORPHA:96149
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia OMIM:229850
1P36 Deletion Syndrome
Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Cryptorchidism, Hepatic st... ORPHA:1606
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Schinzel-Giedion Syndrome
Hepatoblastoma, Annular pancreas, Streak ovary ORPHA:798
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Asplenia OMIM:265380

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 Tmed6

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 Tmed6.

No publications found that use IMPC mice or data for Tmed6.

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
Tmed6tm374987(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmed6em1(IMPC)Rbrc Indel Mice

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