Gene Summary

deleted in malignant brain tumors 1
CRP-[b],  MUCLIN,  CRP-[a],  vomeroglandin,  hensin,  gp300,  Crpd,  ebnerin

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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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 Dmbt1 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 Dmbt1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent skin infections, Erythema nodosum, Colitis, Acne, Inflammation of the large intestine, ... OMIM:300635
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Intestina... ORPHA:26790
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Colitis, Chronic diarrhea, Inflammation of the large intestine, Recurrent si... OMIM:619281
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Anterior uveitis, Ileal ulcer, Skin rash OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Colitis, Acne, Cystic acne, Arthritis OMIM:604416
Immunodeficiency 70
Achalasia, Colitis, Recurrent sinusitis, Celiac disease, Furuncle OMIM:618969
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Aganglionic megacolon, Abnormality of the small intes... ORPHA:95427
Immunodeficiency 57 With Autoinflammation
Gastritis, Bronchiectasis, Inflammation of the large intestine, Perianal abscess, Diarrhea, Skin ... OMIM:618108
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis, Ulcerative colitis OMIM:618394
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Eczema, Dysphagia, Chronic gastritis, Di... OMIM:608809
Esophagitis, Eosinophilic, 1
Esophagitis, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Dysphagia, Vomiting OMIM:613412
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Vomiting, Gastroesophageal reflux,... ORPHA:411696
Trichohepatoenteric Syndrome 2
Colitis, Hepatitis, Diarrhea, Villous atrophy OMIM:614602
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Protracted diarrhea, Infectious encephalitis, Colitis, Malabsorptio... OMIM:209920
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Interface hepatitis, Intestinal malrotation, Colonic atresia, Inte... OMIM:243150
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Enterocolitis, Episodic vomiting, Villous atrophy, Secretory dia... OMIM:616050
Immunodeficiency 58
Recurrent pneumonia, Helicobacter pylori infection, Cutaneous abscess, Colitis, Chronic diarrhea,... OMIM:618131
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Recurrent otitis media, Uveitis, Pneumonia, Erythema nodosum, Arthritis, Col... OMIM:614700
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Colitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurrent... ORPHA:911
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Gastrointestinal hemorrhage, Glomerulonephritis, Inflamm... ORPHA:2137
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Bloody diarrhea, Pneumonia, Arthritis, ... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Pyoderma Gangrenosum
Rheumatoid arthritis, Myositis, Pustule, Inflammation of the large intestine ORPHA:48104
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Peritonitis, Periodontitis, Abdominal pain, Enterocolitis, ... ORPHA:2686
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Acne, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Pal... ORPHA:324964
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczema, Anal fissure, Ul... OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia
Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia, Eosinophilic liver infiltration OMIM:618999
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Gastrointestinal dysmotility, Protracted diarrhea, Ac... ORPHA:67
Sapho Syndrome
Recurrent skin infections, Chronic diarrhea, Acne, Inflammation of the large intestine, Abdominal... ORPHA:793
Nausea, Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Hermansky-Pudlak Syndrome 1
Colitis, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:203300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Colonic stenosis, Peritonitis, Intussusception, Acute co... ORPHA:90038
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Infectious encephalitis, Maculopapular exanthema, Decreased liver function, Erythroderma... ORPHA:540
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal pain, Abdominal distention, Keratoconjuncti... ORPHA:309031
Iga Pemphigus
Neutrophilic infiltration of the skin, Ulcerative colitis, Pustule, Cutaneous abscess ORPHA:555905
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Hematemesis, Episodic vomiting, Eso... ORPHA:71272
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Kindler Epidermolysis Bullosa
Recurrent skin infections, Colitis, Periodontitis, Inflammation of the large intestine, Cheilitis... ORPHA:2908
Congenital Disorder Of Glycosylation, Type Iil
Esophageal varix, Chronic diarrhea, Inflammation of the large intestine OMIM:614576
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Hepatitis, Villous atrophy, Diarrhea, Skin rash, Recurrent skin infection... OMIM:619381
Reactive Arthritis
Arthritis, Conjunctivitis, Inflammation of the large intestine, Recurrent aphthous stomatitis, Ab... ORPHA:29207
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Bloody diarrhea, Pneumonia, Abdominal cramps, Intussusception, My... ORPHA:544482
Sepsis In Premature Infants
Gastrointestinal dysmotility, Decreased liver function, Abdominal distention, Functional abnormal... ORPHA:90051
Neoplasm of the gastrointestinal tract, Myositis, Glomerulonephritis, Rheumatoid arthritis, Ulcer... ORPHA:99867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Bronchiectasis, Intestinal atresia, Dy... OMIM:619708
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Cholangitis, Chronic hepatitis, Colitis, Chronic diarrhea, Eczem... ORPHA:3260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Infectious encephalitis, Bronchiectasis, Eczema, Thyroiditis, Enterocolitis, Hepatitis, Abnormal ... ORPHA:391487
Sweet Syndrome
Myositis, Acne inversa, Acne, Inflammation of the large intestine, Oligoarthritis, Panniculitis, ... ORPHA:3243
Cocaine Intoxication
Intestinal perforation, Nausea, Bloody diarrhea, Colitis, Glomerulonephritis, Tubulointerstitial ... ORPHA:90068
Bloody diarrhea, Lymphadenitis, Erythema nodosum, Arthritis, Inflammatory abnormality of the eye,... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Protuberant abdomen, Periodontitis, Inflammation of the large intestine, Thyroiditis, Enterocolit... ORPHA:79259
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Interface hepatitis, Inflammation of the large intestine, Granulomatous c... ORPHA:562639
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Hepatoblastoma, Colitis, Villous atrophy, Dependency on in... ORPHA:84064
Congenital Factor Xiii Deficiency
Hepatic failure, Inflammation of the large intestine ORPHA:331
Autoimmune Lymphoproliferative Syndrome
Uveitis, Gastritis, Colitis, Glomerulonephritis, Recurrent aphthous stomatitis, Thyroiditis, Hepa... ORPHA:3261
Primary Sclerosing Cholangitis
Abnormal large intestine physiology, Adenocarcinoma of the large intestine, Uveitis, Cholangiocar... ORPHA:171
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Pancolitis, Eosinophilic infiltration of the esophagus, Anoperineal fistula, Per... OMIM:618213
Wiskott-Aldrich Syndrome
Sinusitis, Hematochezia, Blepharitis, Arthritis, Chronic diarrhea, Inflammation of the large inte... ORPHA:906
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Pneumonia, Inflammation of the large intestine, Eczema, Otitis media, Diarrhea OMIM:600903
X-Linked Lymphoproliferative Disease
Hepatic failure, Colitis, Decreased liver function, Myocarditis, Inflammation of the large intest... ORPHA:2442
Wiskott-Aldrich Syndrome
Recurrent pneumonia, Recurrent otitis media, Chronic diarrhea, Inflammation of the large intestin... OMIM:301000
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, High palate, Bifid uvula, Gastroesophageal reflux, Pyloric steno... OMIM:617137
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Feeding difficulties, Perianal dermatitis, Cleft palate, Villous atrophy, Secret... OMIM:619573
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Uveitis, Anorexia, Inflammation of the large intestine, Irido... OMIM:181000
Turner Syndrome
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:881
Mosaic Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99228
Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99413
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine ORPHA:70591
Mowat-Wilson Syndrome
Recurrent otitis media, Bifid uvula, Constipation, Gastrointestinal dysmotility, Cleft hard palat... ORPHA:2152


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 Dmbt1

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 Dmbt1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dmbt1em1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Dmbt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dmbt1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Dmbt1em1(IMPC)Wtsi Exon Deletion Mice
Dmbt1tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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