banner
Genes Phenotypes Help, News, Blog

Gene: Tmed6 MGI:1913519

Log in to follow

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
abnormal liver morphology Tmed6em1(IMPC)Rbrc HOM Late adult 0.00
small pancreas Tmed6em1(IMPC)Rbrc HOM Early adult 0.00
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

10 Images

View images
Gross Pathology and Tissue Collection

Images

7 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

2 Images

View images
Gross Pathology and Tissue Collection

Images

4 Images

View images

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 aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, 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
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... 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
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... OMIM:615710
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Decreased liver function ORPHA:570422
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly OMIM:620151
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... OMIM:613313
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia OMIM:619433
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,... OMIM:618549
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Matthew-Wood Syndrome
Abnormal spleen morphology, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst OMIM:167800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre... ORPHA:369
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Cirrho... OMIM:616860
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Mody
Exocrine pancreatic insufficiency, Hepatocellular adenoma, Pancreatic hypoplasia ORPHA:552
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Dextrocardia
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma ORPHA:60
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney 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
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transa... OMIM:600649
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... OMIM:602782
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Hypopituitarism, Decreased response to growth hormone stimulation test, Ex... ORPHA:811
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Pancreatic atrophy, Pancreatic hypoplasia, Biliary tract abnor... OMIM:137920
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Pancreatic hypoplasia ORPHA:99885
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly 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
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Aceruloplasminemia
Memory impairment, Elevated hepatic iron concentration, Cognitive impairment, Abnormal pancreas m... 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, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... ORPHA:2255
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Portal inflammation, Pancreatic hypoplasia, Exocrine pancreatic insuffi... OMIM:619991
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir... OMIM:235200
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis ORPHA:676
Wolman Disease
Ascites, Hepatomegaly, Hepatic failure, Splenomegaly ORPHA:75233
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... ORPHA:64744
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly ORPHA:163596
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Hypermanganesemia With Dystonia 1
Hepatomegaly, Cirrhosis, Decreased liver function, Elevated circulating hepatic transaminase conc... OMIM:613280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly 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
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... ORPHA:231222
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated hepatic iron concentration OMIM:615234
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic 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 pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Absent gallbladder, Pancreatic aplasia OMIM:618500
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis OMIM:200995
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidism OMIM:617052
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... OMIM:208500
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Glycogen Storage Disease Ib
Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepatomegaly, Hepatocellular carcinoma OMIM:232220
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Pancreatic cysts, Bile d... OMIM:267010
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp... ORPHA:186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Pancreatic fibrosis OMIM:557000
Meckel Syndrome
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... 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, Exocrine pancreatic insufficiency, Abnorma... ORPHA:699
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pheochromocytoma, Pancreatic cysts, Neoplasm of the pancreas OMIM:193300
Cystic Fibrosis
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis... OMIM:219700
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... 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
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Pseudohypoparath... 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
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Cryptorchidism OMIM:130650
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism ORPHA:264450
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Distal Deletion 12Q
Unilateral cryptorchidism, Annular pancreas, Pituitary adenoma, Biliary atresia ORPHA:96149
Feingold Syndrome 1
Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Fryns Syndrome
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia OMIM:229850
1P36 Deletion Syndrome
Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Cryptor... ORPHA:1606
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Schinzel-Giedion Syndrome
Hepatoblastoma, Streak ovary, Annular pancreas ORPHA:798
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter