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Gene: Ern1 MGI:1930134

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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 1
Synonyms:
9030414B18Rik,  Ire1alpha,  Ire1p,  Ire1a

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 Ern1 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 Ern1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, In... ORPHA:439167
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Growth delay, Elevated h... OMIM:615234
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra... OMIM:254450
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia
Skin ulcer, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl... ORPHA:848
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Thrombocytosis, Pancytopenia, Petechiae, Leukocytosis, Portal hype... ORPHA:824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Growth delay, Sideroblasti... OMIM:613561
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Leishmaniasis
Skin ulcer, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Pancyt... ORPHA:507
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Oligohydramnios, Small placenta ORPHA:397590
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia OMIM:611804
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor ORPHA:163596
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Evans Syndrome
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... ORPHA:1959
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Cholelithiasis, Anemia o... ORPHA:231222
Hereditary Spherocytosis
Skin ulcer, Anemia, Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corpus... ORPHA:822
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, He... OMIM:611590
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... ORPHA:98870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Pallor, Megaloblastic anemia, Short stature ORPHA:49827
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Reticulocyt... ORPHA:300298
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaundice, Decreased mean c... ORPHA:231226
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaund... ORPHA:231214
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Eryth... OMIM:600462
Optic Atrophy 1
Pallor OMIM:165500
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor ORPHA:90033
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Increased nuchal translucency, ... OMIM:208150
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Fanconi Anemia, Complementation Group I
Short stature, Bone marrow hypocellularity, Intrauterine growth retardation, Pallor, Neutropenia OMIM:609053
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Retinitis Pigmentosa 51
Pallor OMIM:613464
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Anemia, Hepatomegaly, Petechiae, Leukocytosis, Throm... ORPHA:90051
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Abnormal B cell morphology OMIM:616910
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation OMIM:616307
American Trypanosomiasis
Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifida, ... OMIM:256520
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254528
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Restrictive Dermopathy
Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Premature birth, Premature ... ORPHA:1662
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... ORPHA:263455
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pa... ORPHA:20
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Waldenström Macroglobulinemia
Normocytic anemia, Purpura, Hepatomegaly, Splenomegaly, Pallor, Abnormality of neutrophils, Leukemia ORPHA:33226
Dravet Syndrome
Pallor ORPHA:33069
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia, Elevated circulating alanine aminotransferase concentration, Elevated circu... OMIM:246450
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Beta-Ketothiolase Deficiency
Pallor, Thrombocytosis, Leukocytosis, Hepatomegaly ORPHA:134
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Congenital Syphilis
Intrauterine growth retardation, Hydrops fetalis, Large placenta, Premature birth ORPHA:499009
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Bone marrow hypocellularit... OMIM:227645
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:348
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mosaic Trisomy 16
Intrauterine growth retardation, Single umbilical artery, Large placenta, Premature birth ORPHA:1708
Greenberg Dysplasia
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Neona... OMIM:215140
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Large placenta, Polyhydramnios, Abnormalities of placenta or umb... OMIM:222470
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Leukemia... OMIM:600901
Idiopathic Hypereosinophilic Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pa... ORPHA:3260
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Leukemia... OMIM:227650
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Spina bifida occulta, Increase... OMIM:105650
Myopathy, Mitochondrial, And Ataxia
Short stature, Pallor, Growth delay OMIM:617675
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Tay-Sachs Disease
Pallor OMIM:272800
Fumarase Deficiency
Polycythemia, Pallor, Intrahepatic cholestasis, Hepatic failure OMIM:606812
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Pallor, Neutropenia OMIM:277400
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Restrictive Dermopathy 1
Short umbilical cord, Stillbirth, Polyhydramnios, Premature birth, Neonatal death, Decreased feta... OMIM:275210
Incontinentia Pigmenti
Leukocytosis, Short stature, Eosinophilia, Pallor, Erythema OMIM:308300
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Bone mar... OMIM:227646
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Single umbilical artery, Breech presentation, Anencephal... OMIM:249000
Sheehan Syndrome
Pallor, Dry skin, Normochromic anemia ORPHA:91355
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Growth delay, Splenomegaly, Pallor ORPHA:667
Degcags Syndrome
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Abnormal spleen morphology, Cholestas... OMIM:619488
Neuroblastoma
Thrombocytopenia, Anemic pallor, Anemia ORPHA:635
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Thrombocytopenia, Pallor, Hemolytic anemia, Brain abscess ORPHA:544482
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Polyhydramnios, Premature birth, Intrauterine growth retardation, Spinal dysraphism ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Premature birth, Umbilical hernia ORPHA:116
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Polycythemia, Pallor, Pancreatic cysts ORPHA:892
Histiocytoid Cardiomyopathy
Pallor, Hepatomegaly ORPHA:137675
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, Short stature, T lymphocytopenia OMIM:618223
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Hepatomegaly ORPHA:99125

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 Ern1

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 Ern1.

No publications found that use IMPC mice or data for Ern1.

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MGI Allele Allele Type Produced
Ern1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ern1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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