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Gene: Ern2 MGI:1349436

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
endoplasmic reticulum to nucleus signalling 2
Synonyms:
Ire1b

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 Ern2 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 Ern2 by phenotypic similarity.

Disease Similarity of
phenotypes		 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
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Immunodeficiency 70
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Sclerosing cholangitis, Glomeru... ORPHA:2137
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... ORPHA:911
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... ORPHA:67
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... ORPHA:73263
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Colitis, Enterocolitis, Abdominal pain, ... OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... ORPHA:98813
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Peritonitis, Pancreatitis, Abdominal pain, Co... ORPHA:90038
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... ORPHA:540
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... ORPHA:309031
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... OMIM:617718
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, N... ORPHA:544482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... OMIM:615895
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Chronic hepatitis, Malabso... ORPHA:3260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal abscess, Bl... OMIM:618213
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... ORPHA:99867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... ORPHA:79259
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... ORPHA:84064
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Pancreatitis,... ORPHA:171
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulonephritis, ... ORPHA:3261
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... OMIM:232220
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Recurr... OMIM:301000
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Parotitis, Colitis, Arthritis, Conjunctivitis, Abdominal pain, Epidi... OMIM:620376
Fumarase Deficiency
Hepatic failure, High palate, Necrotizing enterocolitis OMIM:606812
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... OMIM:619573
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Arthritis, Anorexia, Abnormal salivary gland ... OMIM:181000
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Bardet-Biedl Syndrome
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... ORPHA:110
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine ORPHA:70591
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... ORPHA:2152

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 Ern2

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 Ern2.

No publications found that use IMPC mice or data for Ern2.

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MGI Allele Allele Type Produced
Ern2tm94180(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ern2tm94180(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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