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Gene: Erfe MGI:3606476

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Gene Summary

Name:
erythroferrone
Synonyms:
myonectin,  Fam132b

Order Alleles

IMPC Data Collections

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.

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Erfe 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 Erfe by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating copper concentration... OMIM:615517
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,... ORPHA:75563
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... OMIM:616278
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increas... OMIM:613313
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Increased circulating... OMIM:604250
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:189800
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t... ORPHA:300298
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero... OMIM:619868
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated gam... OMIM:614480
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, In... OMIM:613839
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr... ORPHA:3203
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thromb... OMIM:617021
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... OMIM:277410
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Elevated transferrin saturation, Increased circulating ferritin ... OMIM:606069
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity, Polycyt... OMIM:250800
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating lactate dehy... OMIM:278000
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:615506
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Refractory Celiac Disease
Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra... ORPHA:398063
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... OMIM:604290
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Congeni... ORPHA:79230
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased circulating ... ORPHA:446
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating alanine amino... OMIM:615558
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Leishmaniasis
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Abno... ORPHA:507
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... ORPHA:2169
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... ORPHA:231226
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Relapsing Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C... ORPHA:91547
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulat... ORPHA:54251
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Abnormalit... ORPHA:231214
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... ORPHA:905
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc... OMIM:619902
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Hepatic necrosis, Leukopen... OMIM:127550
Myh9-Related Disease
Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate... ORPHA:182050
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased total ... ORPHA:309854
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hypocholesterolemia, Hep... ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina... OMIM:603553
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... ORPHA:811
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... ORPHA:1667
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomega... OMIM:300972
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, S... ORPHA:69663
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Caroli Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Intrahepatic choles... ORPHA:480520
Dietary Iron Overload Disease
Hepatomegaly, Hepatocellular carcinoma, Hepatic periportal necrosis, Viral hepatitis, Hepatitis, ... ORPHA:139507
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Leukocytosis, Hyp... ORPHA:67
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... ORPHA:131
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Chronic hepat... ORPHA:465508
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Cholestasis, Portal h... ORPHA:84081
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypergalactosemia, Cholestasi... OMIM:222470
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat... ORPHA:447
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Hypopho... OMIM:276700
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mea... ORPHA:84064
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Alkaptonuria
Black pigment gallstones, Hemolytic anemia, Methemoglobinemia ORPHA:56

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 Erfe

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 Erfe.

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

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
Erfetm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Erfetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Erfeem1(IMPC)Bay Exon Deletion Mice
Erfetm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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