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Gene: Dhfr MGI:94890

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Gene Summary

Name:
dihydrofolate reductase
Synonyms:
8430436I03Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Dhfrtm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased mean corpuscular hemoglobin Dhfrtm1b(EUCOMM)Wtsi HET Early adult 7.76×10-05
embryonic lethality prior to tooth bud stage Dhfrtm1b(EUCOMM)Wtsi HOM   E12.5 0.00
decreased circulating creatinine level Dhfrtm1b(EUCOMM)Wtsi HET Early adult 1.07×10-05
decreased prepulse inhibition Dhfrtm1b(EUCOMM)Wtsi HET Early adult 5.78×10-08
preweaning lethality, complete penetrance Dhfrtm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 28.57% (2 of 7)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 28.57% (2 of 7)
Embryo N/A heterozygote 85.71% (6 of 7)
Eye N/A heterozygote 28.57% (2 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 28.57% (2 of 7)
Forelimb N/A heterozygote 0.0% (0 of 7)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 7)
Head N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A heterozygote 28.57% (2 of 7)
Hindlimb N/A heterozygote 0.0% (0 of 7)
Liver N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A heterozygote 0.0% (0 of 7)
Maxillary process N/A heterozygote 0.0% (0 of 7)
Midbrain N/A heterozygote 28.57% (2 of 7)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 7)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 7)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail N/A heterozygote 0.0% (0 of 7)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Human diseases caused by Dhfr 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.

The table below shows human diseases associated to Dhfr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839

The table below shows human diseases predicted to be associated to Dhfr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly OMIM:613561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent... OMIM:617021
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Peripheral Cone Dystrophy
Pallor OMIM:609021
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... ORPHA:79303
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... OMIM:600462
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Optic Atrophy 1
Pallor OMIM:165500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly ORPHA:99931
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia OMIM:613101
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly OMIM:620296
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly ORPHA:276575
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir... ORPHA:79301
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ... ORPHA:90051
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly OMIM:105200
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... ORPHA:398124
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Fish-Eye Disease
Splenomegaly, Angina pectoris, Lymphadenopathy, Hepatomegaly ORPHA:79292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... ORPHA:20
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
American Trypanosomiasis
Splenomegaly, Pallor, Hepatomegaly ORPHA:3386
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura ORPHA:33226
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Pulmonic stenosis,... ORPHA:2414
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... ORPHA:3318
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Neutropenia OMIM:609053
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Cardiomyopathy, Hepatomegaly ORPHA:93476
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly ORPHA:134
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Retinitis Pigmentosa 51
Pallor OMIM:613464
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... OMIM:606003
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Intrauterine growth retardat... OMIM:227645
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Dravet Syndrome
Pallor ORPHA:33069
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... ORPHA:3260
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Diamond-Blackfan Anemia 1
Macrocytic anemia, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor OMIM:606812
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia ORPHA:329971
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules OMIM:139090
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... OMIM:153670
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Pericarditis, Lymphadenopathy, Hepatomegaly ORPHA:85414
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis... ORPHA:829
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... OMIM:300842
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Neutropenia, Leukemia, ... OMIM:227646
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Pulmonary... ORPHA:77259
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Corneal neovasculariz... OMIM:617388
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu... ORPHA:71493
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sheehan Syndrome
Normochromic anemia, Dry skin, Pallor ORPHA:91355
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic syst... ORPHA:464329
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated cardiomyopathy, Congestive heart... OMIM:615895
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Spider hemangioma, Splenomegaly, F... ORPHA:2137
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ... OMIM:615512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia ORPHA:892
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Thromb... OMIM:214500
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Pallor, Anemia, Hepatomegaly ORPHA:667
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Retinitis Pigmentosa 75
Pallor OMIM:617023
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration ORPHA:247691
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Incontinentia Pigmenti
Leukocytosis, Erythema, Eosinophilia, Pallor OMIM:308300
Tay-Sachs Disease
Pallor OMIM:272800
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia ORPHA:544482
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Degcags Syndrome
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko... OMIM:619488
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Childhood Absence Epilepsy
Pallor ORPHA:64280
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... ORPHA:1572
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis OMIM:231005
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Biliary ci... OMIM:613471
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... ORPHA:171
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Cardiomyopathy, Low-output c... ORPHA:565612
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Prolactinoma
Pallor ORPHA:2965
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Pan... OMIM:276700
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Esophageal Atresia
Pallor ORPHA:1199
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
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 Dhfr

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 Dhfr.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Dhfrtm1b(EUCOMM)Wtsi PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Dhfrtm1b(EUCOMM)Wtsi PMC8163790
Knockout of dihydrofolate reductase in mice induces hypertension and abdominal aortic aneurysm via mitochondrial dysfunction. Redox biology (March 2019) Dhfrtm1(KOMP)Vlcg PMC6451172

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dhfrtm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Dhfrtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dhfrtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dhfrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dhfrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dhfrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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