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

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 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
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Reticulocytosis, Anemia of inadequate production, An... OMIM:615631
Placental Insufficiency
Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical... ORPHA:439167
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi... OMIM:266200
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Sideroblastic anemia, Pallor, Hepatomega... OMIM:613561
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia 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
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Evans Syndrome
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... ORPHA:231222
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Short stature, Decreased mean corpuscular volume, He... OMIM:611590
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... ORPHA:98870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor ORPHA:56425
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia... ORPHA:3226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Optic Atrophy 1
Pallor OMIM:165500
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276556
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Intrauterine growth retardation, Pappenheimer bodies, ... OMIM:301310
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276580
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Fetal Akinesia Deformation Sequence 1
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... OMIM:208150
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P... ORPHA:101096
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Intrauterine growth retardation, Pallor, Neutropenia, Short stature OMIM:609053
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Retinitis Pigmentosa 51
Pallor OMIM:613464
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt... ORPHA:90051
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Intrauterine growth retardation OMIM:616910
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Decreased... OMIM:256520
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia ORPHA:254528
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Restrictive Dermopathy
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... ORPHA:1662
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Lipid ... ORPHA:20
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Waldenström Macroglobulinemia
Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Leukemia, Abnormality of neutrophils, Purpura ORPHA:33226
Dravet Syndrome
Pallor ORPHA:33069
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... OMIM:246450
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Growth delay 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
Congenital Syphilis
Intrauterine growth retardation, Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Leukemia, Intrauterine growth retardation, Pancytopenia, Anemia, Ret... OMIM:227645
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis ORPHA:348
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mosaic Trisomy 16
Intrauterine growth retardation, Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Trichohepatoenteric Syndrome 1
Polyhydramnios, Intrauterine growth retardation, Large placenta, Abnormalities of placenta or umb... OMIM:222470
Fanconi Anemia, Complementation Group E
Leukemia, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, ... OMIM:600901
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thr... ORPHA:3260
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Fanconi Anemia, Complementation Group A
Leukemia, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, ... OMIM:227650
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Tay-Sachs Disease
Pallor OMIM:272800
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor, Polycythemia OMIM:606812
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly OMIM:277400
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Incontinentia Pigmenti
Erythema, Leukocytosis, Pallor, Eosinophilia, Short stature OMIM:308300
Childhood Absence Epilepsy
Pallor ORPHA:64280
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Leukemia, Pancytopenia, Anemia, Reticulocytopenia,... 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, Intrauterine growth retardation, Large placenta, Oligohydramnios, Breech... OMIM:249000
Sheehan Syndrome
Dry skin, Pallor, Normochromic anemia ORPHA:91355
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Autosomal Recessive Malignant Osteopetrosis
Pallor, Splenomegaly, Hepatomegaly, Anemia, Growth delay ORPHA:667
Degcags Syndrome
Cholestasis, Intrauterine growth retardation, Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallo... OMIM:619488
Neuroblastoma
Anemia, Anemic pallor, Thrombocytopenia ORPHA:635
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia 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
Spinal dysraphism, Intrauterine growth retardation, Large placenta, Polyhydramnios, Premature birth ORPHA:96334
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Large placenta, Polyhydramnios, Premature birth ORPHA:116
Von Hippel-Lindau Disease
Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas ORPHA:892
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Goodpasture Syndrome
Anemia, Pallor OMIM:233450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor 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.

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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