Gene Summary

Name:
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C
Synonyms:
Semay,  Sema Y

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gallbladder morphology Sema6cem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Sema6cem1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Sema6cem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Sema6cem1(IMPC)Mbp HOM Early adult 0.00
small liver Sema6cem1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Sema6cem1(IMPC)Mbp HOM Early adult 0.00
enlarged cecum Sema6cem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Human diseases caused by Sema6c 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 Sema6c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypoplasia, Tracheoesophageal fistula, ... OMIM:601346
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Intestinal malrotation, Pancreatic hypoplasia, Jejunal atresia, ... OMIM:615710
Pancreatic Colipase Deficiency
Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Intrahepatic cholestasis with episodic jaundice, Splenomegaly,... OMIM:211600
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Tetralogy of Fallot, Atrioventricular canal defect, Intestinal malrotation, A... ORPHA:210122
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Biliary tract a... ORPHA:79301
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Hepatomegaly, Dysphagi... ORPHA:2198
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm... ORPHA:3032
Disorder Of Bile Acid Synthesis
Fat malabsorption, Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary ... ORPHA:79168
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure, Hepatosplenomegaly, Elevated circulating alanine aminotransfe... ORPHA:79302
Beta-Thalassemia
Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hepatitis ORPHA:848
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Isolated Biliary Atresia
Fat malabsorption, Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, At... ORPHA:30391
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix, Bicuspid aortic valve, Intrahepatic bile duct dilatation, M... OMIM:618955
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Cardiomegaly OMIM:603903
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:611881
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Decreased liver function, Splenomeg... ORPHA:231222
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, Cholelithi... ORPHA:171
Ppoma
Cholelithiasis, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyperparathyroidism, H... ORPHA:97278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis OMIM:194380
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic li... ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, Cardiomegaly, Left ventricular hyper... OMIM:617713
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Microgastria, Cryptorchidism, Intestinal malrotation, G... OMIM:156810
Myotonic Dystrophy 1
Cholelithiasis, Dysphagia, Testicular atrophy OMIM:160900
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Malabsorption ORPHA:586
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Intes... OMIM:208540
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Macrovesicular... OMIM:600649
Sialuria
Cholelithiasis, Hepatosplenomegaly, Hepatomegaly, High, narrow palate, Elevated hepatic transaminase ORPHA:3166
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Atrial septal defect, Double outlet right ventricle, Elevated he... OMIM:614886
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Grfoma
Cholelithiasis, Intestinal carcinoid, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Pr... ORPHA:97261
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreas... OMIM:212140
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Abnormal gallbladder ... ORPHA:512
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypo... OMIM:600001
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Hep... OMIM:201475
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis... OMIM:607361
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, Elevated ... ORPHA:90003
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Hepatic cysts, Cystic liver disease, Hepatic fibrosi... OMIM:612284
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Hypoparathyroidism, Malabsorption, Asplenia, Chronic active ... OMIM:240300
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Testicular atrophy, Cardiomyopathy, Elevated hepatic tr... OMIM:235200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Tetralogy of Fallot, Patent foramen ovale, Double outlet left ... ORPHA:2255
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary t... ORPHA:1414
Congenital Toxoplasmosis
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly, Jaundice ORPHA:858
Pentalogy Of Cantrell
Absent gallbladder, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, V... ORPHA:1335
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion OMIM:618775
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Restrictive cardiomyopathy ORPHA:822
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Biliary atresia, Primum atrial septal defect, Esophageal atresia OMIM:615272
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Infantile Sialic Acid Storage Disease
High palate, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Hepatic cysts, Mitral valve prolapse OMIM:173900
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly OMIM:619064
Distal Trisomy 5Q
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Cat Eye Syndrome
Total anomalous pulmonary venous return, Intestinal malrotation, Anal atresia, Abnormal heart mor... OMIM:115470
8P Inverted Duplication/Deletion Syndrome
Tetralogy of Fallot, Cryptorchidism, Dextrocardia, High, narrow palate, Aplasia/Hypoplasia of the... ORPHA:96092
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Gastrointestinal hemorrhage, Cholecystitis,... ORPHA:774
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, High palate, Gastroesophageal reflux, Decreased liver function, Splenomegaly, Hep... OMIM:618268
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:255120
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Bive... ORPHA:860
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Microglossia, Cardiomegaly, Myocardial fibrosis OMIM:253250
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Jaundice ORPHA:288
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Cryptorchidism, Furrowed tongue, Decreased testicular size OMIM:300534
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hepatic failure, Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant... ORPHA:79303
Steinfeld Syndrome
Abnormal heart morphology, Absent gallbladder, Bifid uvula, Median cleft lip and palate OMIM:184705
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Inf... ORPHA:562639
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:615512
Caroli Syndrome
Hepatic failure, Portal hypertension, Cirrhosis, Cholangitis, Cholangiocarcinoma, Hepatomegaly, J... ORPHA:480520
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Colonic Atresia
Colonic atresia, Duodenal stenosis, Abdominal situs inversus, Abnormality of mesentery morphology... ORPHA:1198
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Portal hypertension, Cirrhosis, Cholangiocarcinoma, Splenomegaly, Hepatomegaly, Tes... ORPHA:465508
Trisomy 8P
Malrotation of small bowel, Tetralogy of Fallot, Bifid uvula, Abnormal left ventricle morphology,... ORPHA:264450
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Bifid uvula, Elevated circulating alanine aminotransfe... OMIM:614921
Triploidy
Abnormality of the pancreas, Abnormality of the gallbladder, Cryptorchidism, Intestinal malrotati... ORPHA:3376
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Intestinal malrotation, Dextrocardia, Double outlet right ventricle, Situs inversus t... OMIM:605376
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Cardiac amyloidosis, Hypertrophic cardiomyopath... ORPHA:85451
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Atrial septal defect, High, narrow palate, Furrowed tongue, Ventricular septal de... ORPHA:464738
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Absent gallbladder, Bifid uvula, Anal stenosis, Cryptorchidism, Atria... OMIM:145410
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Cardiom... ORPHA:42
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hematemesis, Ventricular sept... OMIM:301068
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Choles... ORPHA:92050
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Absent gallbladder, Tetralogy of Fallot, Esophageal diver... OMIM:617925
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis OMIM:213700
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Abnormal heart valve morphology, Decreased liver function, Neopl... ORPHA:77293
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Colitis, Malabsorption, Villous atrophy, Biliary tract abnormality OMIM:209920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Gastric ulcer, Bacterial endocarditis, Splenomegaly, Mitral v... ORPHA:2072
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Cleft palate OMIM:301066
Familial Adenomatous Polyposis
Colorectal polyposis, Hepatoblastoma, Neoplasm of the gastrointestinal tract, Biliary tract obstr... ORPHA:733
22Q11.2 Deletion Syndrome
Cholelithiasis, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Gastrointestinal hemorr... ORPHA:567
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Meckel Syndrome, Type 4
Bile duct proliferation, Atrial septal defect, Cleft palate, Ventricular septal defect OMIM:611134
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Cleft palate OMIM:300712
Trisomy 10P
High palate, Rectovaginal fistula, Absent gallbladder, Gastroesophageal reflux, Abnormal heart mo... ORPHA:171929
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cryptorchidism, Pancreatic hypoplasia, Hepatomegaly, Pyloric stenosis, Biliary hy... ORPHA:83617
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Hepatomeg... ORPHA:400
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Intussusception, Ovarian ... OMIM:175200
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Cryptorchidism, Abnormality of mesentery morphology, Cleft palate... ORPHA:2075
Lathosterolosis
High palate, Hepatosplenomegaly, Intrahepatic cholestasis, Elevated hepatic transaminase, Bilobat... OMIM:607330
Combined Immunodeficiency-Enteropathy Spectrum
Rectal abscess, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Hepatit... ORPHA:436252
Meckel Syndrome, Type 5
Bile duct proliferation, Cleft palate OMIM:611561
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Fat malabsorption, Portal hypertension, Gastrointestinal hemorrhage, Cholestasis,... ORPHA:731
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly, Macroglossia OMIM:232300
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Jaundice, Cirrhosis, Cardiomegaly, Left ventricular hyper... ORPHA:57777
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Elevated circulating alanine aminotransferase concentration, Macrov... OMIM:608836
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:163979
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Gastrointestinal dysmotility, Atria... ORPHA:363705
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly,... OMIM:617022
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Jaundice,... ORPHA:186
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Vacterl/Vater Association
Abnormality of the pancreas, Abnormality of the gallbladder, Cryptorchidism, Tracheoesophageal fi... ORPHA:887
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Hepatic failure, Hepatomegaly, High, narrow pa... ORPHA:228308
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyopathy, Hepatom... ORPHA:308552
Hsd10 Disease, Infantile Type
Gastrointestinal dysmotility, Cardiomegaly, Hypertrophic cardiomyopathy, Dysphagia ORPHA:391428
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Absent gallbladder, Pancreatic aplasia ORPHA:556955
Digeorge Syndrome
Cholelithiasis, High palate, Hepatic steatosis, Bifid uvula, Tetralogy of Fallot, Parathyroid age... OMIM:188400
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Steinert Myotonic Dystrophy
Cholelithiasis, Dilated cardiomyopathy, Colon cancer, Abnormality of the tongue muscle, Oral-phar... ORPHA:273
Zttk Syndrome
High palate, Absent gallbladder, Bifid uvula, Atrial septal defect, Submucous cleft hard palate, ... OMIM:617140
Meckel Syndrome, Type 2
Bile duct proliferation, Cleft palate OMIM:603194
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy OMIM:619259
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Macroglossia OMIM:268800
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Inter... ORPHA:100086
Williams Syndrome
Cryptorchidism, Colonic diverticula, Macroglossia, Rectal prolapse, Ventricular septal defect, Ca... ORPHA:904
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Absent gallbladder, Tetralogy of Fallot ORPHA:3186
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Macroglossia OMIM:230000
Mogs-Cdg
High palate, Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly... ORPHA:79330
Cerebrotendinous Xanthomatosis
Cholelithiasis, Prolonged neonatal jaundice, Abnormal atrial septum morphology ORPHA:909
Tetrasomy 9P
High palate, Absent gallbladder, Bifid uvula, Patent foramen ovale, Cryptorchidism, Abnormal mitr... ORPHA:3310
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Dysphagia, Cardiomegaly OMIM:608013
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Cleft palate, Ventricular septal defect OMIM:616897
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Macroglossia OMIM:261740
Beck-Fahrner Syndrome
High palate, Cardiomegaly, Ventricular septal defect OMIM:618798
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Neoplas... ORPHA:100085
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Gaucher Disease Type 1
Abnormal myocardium morphology, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Cirrhosis,... ORPHA:77259
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Pancreatic hypoplasia, Splenomegaly, Hepatomegaly, Pulm... OMIM:602782
Abetalipoproteinemia
Fat malabsorption, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Car... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hypertrophic cardiomyopathy, Decreased liver function, Elevated hepatic ... OMIM:618329
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasc... ORPHA:1677
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Peters-Plus Syndrome
Cryptorchidism, Atrial septal defect, Pulmonic stenosis, Biliary tract abnormality, Ventricular s... OMIM:261540
Cranioectodermal Dysplasia 2
High palate, Biliary cirrhosis, Patent foramen ovale, Cholestasis, Cholangitis, Bile duct prolife... OMIM:613610
Paternal Uniparental Disomy Of Chromosome 6
High palate, Cryptorchidism, Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly ORPHA:96191
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Biliary cirrhosis, Biliary tract obstruction, Meconium ileus, ... OMIM:219721
Ring Chromosome 13 Syndrome
High palate, Hypoplasia of the gallbladder, Anal atresia ORPHA:96176
Fg Syndrome Type 1
High palate, Malrotation of colon, Small pituitary gland, Cryptorchidism, Atrial septal defect, G... ORPHA:93932
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:618143
Scleroderma
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:801
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Vent... OMIM:618278
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Gastroesophageal reflux, Tracheoesophageal fistula, Pa... ORPHA:95430
Systemic Sclerosis
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:90291
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Submucous cleft soft palate, Absent gallbladder, Bifid uvula, Gastrointestinal dysmotility, Atria... ORPHA:500150
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Hepatomegaly, Abn... ORPHA:581
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:252500
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Enlarged kidney, Cryptorchidism, Pancreatic hyperplasia, Hepatomegaly, Macrogloss... OMIM:130650
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Intestinal malrotation, Lobulated tongue, Bile duct proliferati... OMIM:249000
D-Bifunctional Protein Deficiency
High palate, Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:261515
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Dysphagia, Right ventricular hypertrophy ORPHA:268
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cholestasis, Bile duct proliferation, Dextrocardia, Ventricular septal defect,... OMIM:619534
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Tetralogy of Fall... OMIM:619525
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Cleft palate ORPHA:158687
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Intest... OMIM:613658
Biliary Malformation With Renal Tubular Insufficiency
High palate, Biliary hyperplasia, Jaundice OMIM:210550
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Submucous cleft soft palate, Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, C... OMIM:300967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Neurofibroma
Multiple intestinal neurofibromatosis, Abnormal biliary tract morphology, Enlargement of parotid ... ORPHA:252183
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Histiocytoid Cardiomyopathy
Polycystic ovaries, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyopathy, Hepatom... ORPHA:365
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Cardiomegaly, Pseudohypoparathyroidism, Enlarg... ORPHA:116
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Cardiomegaly ORPHA:2463
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, High, narrow palate ORPHA:91387
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Prolonged neonatal jaundice, Elevated hepatic tr... ORPHA:51
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Cryptorchidism, Atrial septal defect, Gastroesophageal reflux, Ag... ORPHA:818
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Splenomegaly, Hepatomegaly, Macroglossia, Elevated hepatic transaminase, Elevated circ... OMIM:256040
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Abnormality of the gallbladder, Cryptorchidism, Atrial septal de... ORPHA:280
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Intestinal polyposis, Narrow palate, Abnormal large intestine morphology ORPHA:109
Yunis-Varon Syndrome
Tetralogy of Fallot, Cryptorchidism, Atrial septal defect, High, narrow palate, Glossoptosis, Pyl... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Pancreatic calcification, Ventricular hypertrophy, Cardiomegaly, Hepati... ORPHA:51608
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve calcification, Cardiomegaly... OMIM:182250

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 Sema6c

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 Sema6c.

No publications found that use IMPC mice or data for Sema6c.

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MGI Allele Allele Type Produced
Sema6ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sema6cem1(IMPC)Mbp Exon Deletion Mice
Sema6ctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sema6ctm41362(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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