banner
Genes Phenotypes Help, News, Blog

Gene: Muc1 MGI:97231

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mucin 1, transmembrane
Synonyms:
CD227,  Muc-1,  EMA

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Muc1 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.

The table below shows human diseases associated to Muc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
OMIM:174000

The table below shows human diseases predicted to be associated to Muc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... OMIM:211600
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis OMIM:235700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep... ORPHA:209902
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Beta-Thalassemia
Hepatomegaly, Hepatitis, Splenomegaly, Cholelithiasis ORPHA:848
Myotonic Dystrophy 1
Testicular atrophy, Dysphagia, Cholelithiasis OMIM:160900
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Generalized Pseudohypoaldosteronism Type 1
Vomiting, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:171876
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Fibro-obliterative bile-duct lesion, ... OMIM:619849
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole... ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Diarrhea, Acholic stool... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 59
Vomiting, Cholelithiasis OMIM:620646
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... ORPHA:79301
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole... ORPHA:97261
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated ... ORPHA:131
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Intra... ORPHA:97283
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Diarrhea, Asplenia, Atrophic gastritis OMIM:240300
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Diarrhea, Pancreatic hypoplasia, Cholestasis, Absent gallbladd... OMIM:615710
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infarction, Portal hy... ORPHA:77259
Alpha-Thalassemia
Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Glycogen Storage Disease Xii
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating alanine aminotransferase concentrati... OMIM:611881
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly OMIM:603903
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis OMIM:615512
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Nausea, Biliary tract neoplasm, Cholecystitis, ... ORPHA:100086
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Jaundice, Cirrhosis, Hyperlipidemia, Portal hypertensi... ORPHA:1414
Cerebrotendinous Xanthomatosis
Diarrhea, Xanthelasma, Cholelithiasis, Pseudobulbar paralysis OMIM:213700
Hereditary Spherocytosis
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly ORPHA:822
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis OMIM:300534
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Hepatomegaly, Gastroesophageal reflux, Cholelithiasis, Chr... OMIM:618268
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Intermittent jaundice, Splenomegaly, Cholelithiasis ORPHA:3202
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Cholelithiasis ORPHA:288
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Adrenocorticotropic hormone deficiency OMIM:201400
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Abnormality of the spleen, Pigment gallstones ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Chronic constipation, Cholecystitis OMIM:301066
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Basel-Vanagaite-Smirin-Yosef Syndrome
Constipation, Cholelithiasis ORPHA:464738
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Enlarged pol... ORPHA:2869
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Hyperlip... ORPHA:77293
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Bohring-Opitz Syndrome
Vomiting, Annular pancreas, Cholelithiasis ORPHA:97297
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Splenomegaly, Nodular regenerative hyperplasia of liver, Cholecystitis, Hepa... OMIM:620367
Porphyria, Congenital Erythropoietic
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly OMIM:263700
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Bowel incontinence, Abnormal gallbladder morphology ORPHA:512
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Cerebrotendinous Xanthomatosis
Chronic diarrhea, Cholelithiasis, Prolonged neonatal jaundice ORPHA:909
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Gaucher Disease
Cirrhosis, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenic rupture, Splenomegaly, Dysph... ORPHA:355
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypoparathyroidism, Gastroesophageal reflux, Cholelithiasis, Hypopla... ORPHA:567
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Porta... ORPHA:774
Caroli Syndrome
Hematemesis, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Melena... ORPHA:480520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism ORPHA:83617
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:69665
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Triploidy
Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas, Hepatomegaly ORPHA:3376
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Hepatic fibrosis ORPHA:2072
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase con... OMIM:607330
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Abnormal mesentery morphology, Cryptorchidism ORPHA:2075
Digeorge Syndrome
Cholelithiasis, Gastroesophageal reflux, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovaria... OMIM:188400
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly ORPHA:349
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Williams Syndrome
Cholelithiasis, Gastroesophageal reflux, Constipation, Polycystic ovaries, Cryptorchidism ORPHA:904
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis, Bowel incontinence ORPHA:309271
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Trisomy 8P
Constipation, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancr... ORPHA:2255
Vacterl/Vater Association
Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism ORPHA:887
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Alkaptonuria
Black pigment gallstones ORPHA:56
Q Fever
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Spleno... ORPHA:781
Hardikar Syndrome
Hematemesis, Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transami... OMIM:301068
Listeriosis
Jaundice, Liver abscess, Diarrhea, Splenic abscess, Vomiting, Nausea, Peritonitis, Hepatic granul... ORPHA:533
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Chronic gastritis, Viral hepatitis, Cholecystitis ORPHA:183675
Trisomy 10P
Absent gallbladder, Dysphagia, Gastroesophageal reflux ORPHA:171929
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hype... ORPHA:731
Rett Syndrome
Cholecystitis ORPHA:778
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Gaisböck Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Cholecystitis ORPHA:90041
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Zttk Syndrome
Absent gallbladder, Chronic diarrhea OMIM:617140
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Bile duct proliferation, Elevated circulating hepatic transaminase conc... OMIM:618329
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Crimean-Congo Hemorrhagic Fever
Hematemesis, Jaundice, Hepatomegaly, Melena, Diarrhea, Parotitis, Acute pancreatitis, Splenomegal... ORPHA:99827
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Gastroesophageal reflux, Cryptorchidism ORPHA:818
Kawasaki Disease
Diarrhea, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Abdominal situs inversus, Cryptorchidism ORPHA:280
Igg4-Related Kidney Disease
Decreased liver function, Pancreatitis, Sclerosing cholangitis, Sialadenitis, Abnormal mesentery ... ORPHA:449395
Tetrasomy 9P
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism ORPHA:3310
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Gastroparesis, Chronic diarrhea, Dysphagia, Absent gallbladder ORPHA:500150
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Gas... OMIM:613658
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, E... OMIM:619525
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:619991
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Intrahepatic bile duct dilatation, An... OMIM:619534
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Cryptorchidism, Malformation o... OMIM:249000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
OMIM:174000

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 Muc1

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 Muc1.

No publications found that use IMPC mice or data for Muc1.

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
Muc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Muc1tm40447(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Muc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Muc1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter