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Gene: Cyp21a1 MGI:88591

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Gene Summary

Name:
cytochrome P450, family 21, subfamily a, polypeptide 1
Synonyms:
21OHA,  Oh21-1,  21-OH,  21OH,  Cyp21,  21-hydroxylase

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
preweaning lethality, complete penetrance Cyp21a1em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Cyp21a1em1(IMPC)Tcp HET Early adult 0.00
decreased exploration in new environment Cyp21a1em1(IMPC)Tcp HET   Early adult 3.25×10-07
enhanced contextual conditioning behavior Cyp21a1em1(IMPC)Tcp HET Early adult 9.96×10-05
pallor Cyp21a1em1(IMPC)Tcp HOM E18.5 0.00
abnormal skin morphology Cyp21a1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Cyp21a1em1(IMPC)Tcp HOM   Early adult 0.00

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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.

Histopathology

Images

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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Eye Morphology

Images Slit Lamp

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Gross Pathology and Tissue Collection

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9 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

1 Images

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Human diseases caused by Cyp21a1 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 Cyp21a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
OMIM:201910

The table below shows human diseases predicted to be associated to Cyp21a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Dementia ORPHA:2274
Breath-Holding Spells
Pallor OMIM:607578
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Trimethylaminuria
Splenomegaly, Depression, Anemia, Neutropenia OMIM:602079
Optic Atrophy 1
Pallor OMIM:165500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Sandhoff Disease
Splenomegaly, Hepatomegaly, Motor deterioration, Progressive psychomotor deterioration ORPHA:796
Myelofibrosis
Pallor, Purpura OMIM:254450
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Irida Syndrome
Pallor ORPHA:209981
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Cognitive impairment ORPHA:172
Coproporphyria, Hereditary
Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression OMIM:121300
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Elliptocytosis 1
Pallor OMIM:611804
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen... OMIM:231000
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Men... OMIM:607616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Retinitis Pigmentosa 51
Pallor OMIM:613464
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Irritability, Reticulocytosis OMIM:612126
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Cold Agglutinin Disease
Pallor ORPHA:56425
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Congenital Heart Block
Pallor ORPHA:60041
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Dravet Syndrome
Pallor ORPHA:33069
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Tay-Sachs Disease
Pallor OMIM:272800
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Senior-Loken Syndrome 8
Pallor OMIM:616307
Childhood Absence Epilepsy
Pallor ORPHA:64280
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Letterer-Siwe Disease
Pallor OMIM:246400
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
American Trypanosomiasis
Pallor ORPHA:3386
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dementia, Sea-blue histiocytos... OMIM:257220
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Aregenerative Anemia
Pallor ORPHA:101096
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Adenohypophysitis
Pallor ORPHA:95512
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Panhypophysitis
Pallor ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Prolactinoma
Pallor ORPHA:2965
Fumarase Deficiency
Pallor OMIM:606812
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Esophageal Atresia
Pallor ORPHA:1199
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Degcags Syndrome
Pallor OMIM:619488
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Diamond-Blackfan Anemia
Pallor ORPHA:124
Von Hippel-Lindau Disease
Pallor ORPHA:892
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
OMIM:201910

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 Cyp21a1

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 Cyp21a1.

No publications found that use IMPC mice or data for Cyp21a1.

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MGI Allele Allele Type Produced
Cyp21a1em1(IMPC)Tcp Exon Deletion Mice

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