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
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Chronic diarrhea, Steatorrhea ORPHA:309108
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Mirizzi Syndrome
Cholelithiasis, Vomiting, Elevated circulating hepatic transaminase concentration, Jaundice, Panc... ORPHA:521219
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta... ORPHA:53035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr... ORPHA:209902
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Hematochezia, Giant cell hepatitis, Elevated circulating hepatic trans... ORPHA:79095
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Dysphagia OMIM:160900
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Diarrhea, Portal inflammation, Elevated circulating hepatic transaminas... OMIM:602347
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Vomiting, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:171876
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Ppoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Cholelithiasis, Increased circul... ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Hep... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Vomiting OMIM:620646
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:3166
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Grfoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Cholelithiasis, Increased circul... ORPHA:97261
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Increased cir... ORPHA:97283
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:614886
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic active hepatitis, Hypoparathyroidism, Asplenia OMIM:240300
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atres... OMIM:615710
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy... ORPHA:77259
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen... OMIM:611881
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice OMIM:615512
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Nausea, ... ORPHA:100086
Cerebrotendinous Xanthomatosis
Xanthelasma, Diarrhea, Cholelithiasis, Pseudobulbar paralysis OMIM:213700
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly ORPHA:822
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cholelithiasis, Cryptorchidism OMIM:300534
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... OMIM:618268
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... OMIM:601346
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice ORPHA:3202
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly 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
Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency OMIM:201400
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice ORPHA:232
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Chronic constipation, Hepatomegaly OMIM:301066
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Constipation ORPHA:464738
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma... ORPHA:2869
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Hyperlipidemia, Splenom... ORPHA:77293
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Bohring-Opitz Syndrome
Cholelithiasis, Vomiting, Annular pancreas ORPHA:97297
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Porphyria, Congenital Erythropoietic
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly OMIM:263700
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Metachromatic Leukodystrophy
Hemobilia, Neoplasm of the gallbladder, Bowel incontinence, Abnormal gallbladder morphology ORPHA:512
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea ORPHA:909
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Splenic ... ORPHA:355
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... ORPHA:562639
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Cholelithiasis, Cryptorchidism, Splenomegal... ORPHA:567
Steinert Myotonic Dystrophy
Cholelithiasis, Diarrhea, Elevated circulating hepatic transaminase concentration, Oral-pharyngea... ORPHA:273
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis,... ORPHA:774
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Cho... ORPHA:69665
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly ORPHA:83617
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas ORPHA:3376
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly ORPHA:2072
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... OMIM:607330
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism ORPHA:2075
Digeorge Syndrome
Cholelithiasis, Gastroesophageal reflux, Parathyroid hypoplasia, Hepatic steatosis, Ovarian cyst,... OMIM:188400
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
Williams Syndrome
Cholelithiasis, Gastroesophageal reflux, Cryptorchidism, Polycystic ovaries, Constipation ORPHA:904
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... ORPHA:98908
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Pancreatic cysts, Bile d... OMIM:267010
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Bowel incontinence, Cholecystitis ORPHA:309271
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Constipation, Annular pancreas, Cryptorchidism ORPHA:264450
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... OMIM:618500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... ORPHA:2255
Vacterl/Vater Association
Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas ORPHA:887
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Alkaptonuria
Black pigment gallstones ORPHA:56
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Vomiting, Portal inflammation, Elevated circulating hepatic tr... OMIM:301068
Listeriosis
Vomiting, Diarrhea, Cholecystitis, Nausea, Peritonitis, Hepatic granulomatosis, Splenic abscess, ... ORPHA:533
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Cholecystitis, Cholangitis, Liver abscess ORPHA:183675
Trisomy 10P
Gastroesophageal reflux, Dysphagia, Absent gallbladder 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
Hepatic fibrosis, Gastrointestinal hemorrhage, Periportal fibrosis, Cholestasis, Hepatosplenomega... 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
Hypercholesterolemia, Cholecystitis, Hypertriglyceridemia ORPHA:90041
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Vomiting, Elevated circulating hepatic transaminase concentration, Micronodular ... OMIM:203700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Zttk Syndrome
Chronic diarrhea, Absent gallbladder 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
Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... OMIM:618329
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Diarrhea, Parotitis, Cholecystitis, Splenomegaly, Orchitis, Hematemesis, Hemoper... 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
Jaundice, Diarrhea, Hepatitis, Cholecystitis ORPHA:2331
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Cryptorchidism, Abdominal situs inversus ORPHA:280
Igg4-Related Kidney Disease
Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing ... ORPHA:449395
Tetrasomy 9P
Jaundice, Absent gallbladder, Cryptorchidism, Biliary atresia ORPHA:3310
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Gastroparesis, Absent gallbladder, Chronic diarrhea, Dysphagia ORPHA:500150
Rajab Interstitial Lung Disease With Brain Calcifications 1
Vomiting, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Decre... OMIM:613658
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... OMIM:208500
Congenital Disorder Of Glycosylation, Type Iiw
Vomiting, Gastroesophageal reflux, Increased hepatic echogenicity, Elevated circulating hepatic t... OMIM:619525
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ... ORPHA:733
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... OMIM:613610
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Vomiting, Diarrhea, Portal inflammation, Elevated circ... OMIM:619991
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Gastroesophageal reflux, Biliary cirrhosis, Cholestasis, Elevated circulating a... OMIM:619534
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Cryptorchidism, Splenomegaly, Aspleni... 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