Not currently registered for phenotyping at IMPC

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

Gene Summary

endoplasmic reticulum (ER) to nucleus signalling 1
9030414B18Rik,  Ire1p,  Ire1alpha,  Ire1a

IMPC Data Collections

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

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.

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
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Pallor ORPHA:46532
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, S... OMIM:615631
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,... ORPHA:439167
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor ORPHA:517
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Intrauterine growth retardatio... OMIM:266200
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Pallor, Growth delay, Eleva... OMIM:615234
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Pallor, Thrombocytopenia... ORPHA:848
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase, Sideroblastic anemia, Growth delay, Pallor OMIM:613561
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Anemia, Sideroblastic, 1
Anemic pallor, Anemia of inadequate production, Macrocytic anemia, Sideroblastic anemia, Hypochro... OMIM:300751
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Ecchymosis,... ORPHA:824
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:507
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Elliptocytosis 1
Jaundice, Elliptocytosis, Hemolytic anemia, Splenomegaly, Pallor OMIM:611804
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Splenomegaly, Pallor ORPHA:163596
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Peripheral Cone Dystrophy
Pallor OMIM:609021
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... ORPHA:822
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocytopenia, Auto... ORPHA:1959
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Short s... OMIM:611590
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia... OMIM:613839
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Elevated hepatic transaminase, Short statu... ORPHA:98870
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Thrombocytopenia, Pallor, Megaloblastic anemia ORPHA:49827
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Pallor, Thr... ORPHA:3226
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Optic Atrophy 1
Pallor OMIM:165500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Elevated hepa... ORPHA:300298
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Delayed puberty, Hepatocellular carcinoma, Jaundice, Extramedul... ORPHA:231226
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:98375
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Beta-Thalassemia Major
Hepatosplenomegaly, Delayed puberty, Hepatocellular carcinoma, Anisopoikilocytosis, Jaundice, Ext... ORPHA:231214
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Anemia, Thrombocytopenia, Pallor, Neutropenia OMIM:246400
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia... OMIM:600462
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Hepatomegaly, Pallor ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor ORPHA:276556
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly, Pallor ORPHA:90033
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor ORPHA:276580
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Nonimmune hydrops fetalis, Increased nuchal translucency, Fetal akinesia se... OMIM:208150
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Pallor, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Intrauterine growth retardation, Short stature, Pallor, Neutropenia OMIM:609053
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Exocrine pancreatic insufficiency, Erythema, Anemia, Hepatomegal... OMIM:557000
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia, Pallor ORPHA:90045
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Pallor OMIM:616959
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Sepsis In Premature Infants
Jaundice, Leukocytosis, Anemia, Hepatomegaly, Purpura, Pallor, Thrombocytopenia, Petechiae, Decre... ORPHA:90051
Retinitis Pigmentosa 51
Pallor OMIM:613464
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Pancreatic cysts, Hepatic cysts OMIM:616307
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Anemic pallor, Anemi... ORPHA:86839
Neu-Laxova Syndrome 1
Short umbilical cord, Fetal akinesia sequence, Decreased fetal movement, Hydranencephaly, Spina b... OMIM:256520
American Trypanosomiasis
Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Intrauterine growth retardation, Large placenta ORPHA:254528
Restrictive Dermopathy
Short umbilical cord, Decreased fetal movement, Premature delivery because of cervical insufficie... ORPHA:1662
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Pallor, Iron deficiency anemia ORPHA:54028
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hepatic transaminase, Pallor, Increased... ORPHA:263455
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Leukocytosis, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, Acute pa... ORPHA:20
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Leukemia, Hepatomegaly, Purpura, Pallor, Splenomegaly ORPHA:33226
Dravet Syndrome
Pallor ORPHA:33069
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Thrombocytosis ORPHA:134
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fanconi Anemia, Complementation Group C
Anemia, Leukemia, Bone marrow hypocellularity, Anemic pallor, Reticulocytopenia, Intrauterine gro... OMIM:227645
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Pallor, Elevated hepatic transaminase ORPHA:348
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Mosaic Trisomy 16
Single umbilical artery, Intrauterine growth retardation, Large placenta, Premature birth ORPHA:1708
Retinitis Pigmentosa 75
Pallor OMIM:617023
Greenberg Dysplasia
Nonimmune hydrops fetalis, Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Neonat... OMIM:215140
Trichohepatoenteric Syndrome 1
Polyhydramnios, Intrauterine growth retardation, Large placenta, Abnormalities of placenta or umb... OMIM:222470
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Pancytopenia... OMIM:600901
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Intrauterine growth retardation, Reticulocytopenia, Macrocytic anemi... OMIM:105650
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Myeloproliferative disorder, Leukocytosis, Chronic hepatitis, An... ORPHA:3260
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, S... ORPHA:124
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Pancytopenia... OMIM:227650
Myopathy, Mitochondrial, And Ataxia
Short stature, Pallor, Growth delay OMIM:617675
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Restrictive Dermopathy 1
Premature rupture of membranes, Short umbilical cord, Decreased fetal movement, Polyhydramnios, I... OMIM:275210
Fumarase Deficiency
Pallor, Hepatic failure, Polycythemia, Intrahepatic cholestasis OMIM:606812
Incontinentia Pigmenti
Erythema, Leukocytosis, Short stature, Eosinophilia, Pallor OMIM:308300
Normochromic anemia, Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Normochromic anemia, Pallor ORPHA:95513
Fanconi Anemia, Complementation Group D2
Anemia, Leukemia, Bone marrow hypocellularity, Anemic pallor, Reticulocytopenia, Short stature, T... OMIM:227646
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Meckel Syndrome, Type 1
Breech presentation, Occipital encephalocele, Intrauterine growth retardation, Anencephaly, Large... OMIM:249000
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sheehan Syndrome
Dry skin, Normochromic anemia, Pallor ORPHA:91355
Rare Circulatory System Disease
Pallor ORPHA:98028
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hepatomegaly, Splenomegaly, Growth delay, Pallor ORPHA:667
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Degcags Syndrome
Hepatosplenomegaly, Leukopenia, Abnormal spleen morphology, Anemia, Cholestasis, Intrauterine gro... OMIM:619488
Delayed puberty, Pallor ORPHA:2965
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Pancreatitis, Brain abscess, Thrombocytopenia, Pallor ORPHA:544482
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Polyhydramnios, Intrauterine growth retardation, Large placenta, Premature birth ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polyhydramnios, Umbilical hernia, Large placenta, Premature birth ORPHA:116
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Von Hippel-Lindau Disease
Polycythemia, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor ORPHA:892
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Esophageal Atresia
Pallor, Growth delay ORPHA:1199
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic an... OMIM:615607
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, Short stature, T lymphocytopenia OMIM:618223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125


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.

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
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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