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

IMPC Data Collections

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

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.

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
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Jaundice, Splenomegaly OMIM:224100
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice OMIM:613470
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Jaundice, Intrahepatic cholestas... OMIM:211600
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Vomiting, Elevated hepatic transaminase, Nausea, Choleste... ORPHA:521219
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Vomiting, Cholestasis,... ORPHA:53035
Alpha-Thalassemia
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:235700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Hypertriglycer... ORPHA:209902
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated ... ORPHA:567983
Spherocytosis, Type 1
Cholelithiasis, Jaundice, Splenomegaly OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, Intrahepatic chol... OMIM:602347
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Elevated hepatic t... ORPHA:79095
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Dysphagia OMIM:160900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice OMIM:194380
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... OMIM:619849
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Vomiting, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:171876
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Diarrhea, Cholestasis, Pancreatic hypoplasia, Absent gallbladd... OMIM:615710
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhos... ORPHA:231222
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Somatostatinoma
Neoplasm of the pancreas, Pituitary adenoma, Gallbladder dysfunction, Hepatomegaly, Extrahepatic ... ORPHA:97283
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Intesti... ORPHA:131
Sialuria
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... ORPHA:30391
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Diarrhea, Atrophic gastritis, Asplenia OMIM:240300
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Elevated circulating alanine aminotran... OMIM:611881
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated hepatic transaminase, Hepatic failure OMIM:614886
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, St... OMIM:618268
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Diarrhea, Elevated hepatic t... OMIM:613812
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Cholecystitis, Biliary tract obstruction, Nausea, Biliary tract neoplas... ORPHA:100086
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Hereditary Elliptocytosis
Cholelithiasis, Jaundice, Splenomegaly, Prolonged neonatal jaundice ORPHA:288
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Jaundice OMIM:615512
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:603903
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Portal hypertension, Gastrointestinal ... ORPHA:774
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:822
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Pseudobulbar paralysis, Xanthelasma OMIM:213700
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Cryptorchidism, Decreased testicular size OMIM:300534
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Chronic constipation OMIM:301066
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Jaundice, Cholestasis OMIM:201400
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Constipation ORPHA:464738
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Vomiting, Abnormality of the gallbladder, Intestinal obstruction, Bi... ORPHA:2869
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, Sp... ORPHA:77293
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Vomiting ORPHA:97297
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Bowel incontinence, Neoplasm of the gallbladder ORPHA:512
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Cholestasis, Elevated hepatic t... ORPHA:79303
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice ORPHA:909
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Inflammation of the la... ORPHA:562639
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypoparathyroidism, Gastroesophageal reflux, Constipation, Splenomegaly, Hypoplas... ORPHA:567
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Constipation, Decreased respon... ORPHA:273
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hematemesis, Hepatic failure, Cirrhosis, ... ORPHA:480520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Cryptorchidism, Pancreatic hypoplasia, Biliary hyperplasia ORPHA:83617
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Cholecystitis, Elevated hepatic transaminase, Abnormal pineal melato... ORPHA:69665
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cry... OMIM:156810
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Hepatic fibrosis ORPHA:2072
Triploidy
Abnormality of the gallbladder, Cryptorchidism, Hepatomegaly, Abnormality of the pancreas ORPHA:3376
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Cryptorchidism, Abnormality of mesentery morphology ORPHA:2075
Digeorge Syndrome
Cholelithiasis, Hydrocele testis, Gastroesophageal reflux, Splenomegaly, Ovarian cyst, Hypoplasia... OMIM:188400
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly ORPHA:349
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Vomiting... OMIM:203700
Williams Syndrome
Cholelithiasis, Gastroesophageal reflux, Constipation, Polycystic ovaries, Cryptorchidism ORPHA:904
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Lathosterolosis
Elevated hepatic transaminase, Hepatosplenomegaly, Intrahepatic cholestasis, Bilobate gallbladder OMIM:607330
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ... OMIM:267010
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Constipation, Cryptorchidism ORPHA:264450
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Elevated hepatic transaminase, Hypertriglyceri... ORPHA:98908
Vacterl/Vater Association
Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas ORPHA:887
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Ap... ORPHA:2255
Hardikar Syndrome
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... OMIM:301068
Q Fever
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Elevated hepatic transaminase, Hep... ORPHA:781
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Absent gallbladder ORPHA:556955
Listeriosis
Splenic abscess, Peritonitis, Diarrhea, Vomiting, Cholecystitis, Hepatic granulomatosis, Nausea, ... ORPHA:533
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Cholecystitis, Cholangitis, Liver abscess ORPHA:183675
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Trisomy 10P
Dysphagia, Absent gallbladder, Gastroesophageal reflux ORPHA:171929
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Rett Syndrome
Cholecystitis ORPHA:778
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... ORPHA:731
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Zttk Syndrome
Absent gallbladder, Chronic diarrhea OMIM:617140
Gaisböck Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Cholecystitis ORPHA:90041
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Kawasaki Disease
Hepatitis, Diarrhea, Jaundice, Cholecystitis ORPHA:2331
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Orchitis, Splenomegaly, Hepatic failure, Hematemesis, Diarr... ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, Macrovesicular ... OMIM:618329
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Absent gallbladder, Pancreatic hypoplasia OMIM:600001
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Cryptorchidism, Gastroesophageal reflux ORPHA:818
Igg4-Related Kidney Disease
Decreased liver function, Sialadenitis, Pancreatitis, Sclerosing cholangitis, Cholecystitis, Abno... ORPHA:449395
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Cryptorchidism, Abdominal situs inversus ORPHA:280
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Absent gallbladder, Chronic diarrhea, Dysphagia, Gastroparesis ORPHA:500150
Tetrasomy 9P
Biliary atresia, Absent gallbladder, Jaundice, Cryptorchidism ORPHA:3310
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... OMIM:208500
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... OMIM:261515
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pituitary adenoma, Pancreatitis, Hepatoblastoma, Biliary tract obstruction, G... ORPHA:733
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Elevated circulating aspartate aminotransfer... OMIM:619525
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality OMIM:261540
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Gastroesophageal reflux, Cirrhosis, Vomiting, Cholestasis, Elevated hep... OMIM:613658
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Cholangitis, Bile duct pr... OMIM:613610
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... OMIM:619991
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Gastroesophageal reflux, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis... OMIM:619534
Meckel Syndrome, Type 1
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... 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

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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

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