Gene: Casp8 MGI:1261423

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
caspase 8
Synonyms:
Mch5,  MACH,  FLICE,  Caspase-8

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Casp8 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 Casp8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Breast Cancer
OMIM:114480
Lung Cancer
OMIM:211980

The table below shows human diseases predicted to be associated to Casp8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Immunodeficiency 19
Lymphopenia OMIM:615617
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis, Polycythemia OMIM:260900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Splenomegaly, Anemia, Anemia of inadequate production, Hy... OMIM:613673
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal ... OMIM:619167
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Tempi Syndrome
Intracranial hemorrhage, Polycythemia, Increased hematocrit, Telangiectasia ORPHA:284227
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Myopathy, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Thrombocytosis, Polycythemia ORPHA:2905
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Polycythemia, Abnormal left ventricular function, Hypertension, Myocard... ORPHA:892
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Livedoid Vasculopathy
Ischemic stroke, Leukocytosis, Polycythemia, Hypertension, Telangiectasia of the skin, Pancytopen... ORPHA:542643
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Polycythemia, Splenomegaly, Portal hypertension, Hypertrophic cardiomyopathy ORPHA:309854
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Anemia, Pulmonary a... OMIM:600376
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Myopathy, Rhabdomyolysis, Hemolytic anemia OMIM:300653
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Fumarase Deficiency
Polycythemia OMIM:606812
Hepatocellular Carcinoma
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Budd-Chiari syndrome, Thrombocyto... ORPHA:88673
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Anemia, High-output... OMIM:187300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Thrombocytopenia, Myocardial infa... ORPHA:54057
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Glycogen Storage Disease Vii
Increased muscle glycogen content, Reticulocytosis, Hemolytic anemia, Reduced erythrocyte 2,3-dip... OMIM:232800
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Facial palsy, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Rhabdomyolysis, Decreased hemoglobin concentration, Myopathy ORPHA:713
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Polycythemia, Large placenta, Umbilical hernia, Leiomyosarcoma, Sp... ORPHA:116
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Anisocytosis,... OMIM:618278
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension OMIM:193300
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Ataxia-Telangiectasia
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Hypoplasia o... OMIM:208900
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ... OMIM:109270
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Nijmegen Breakage Syndrome
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Spherocytosis, Type 4
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612653
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia OMIM:611590
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Acute myeloid leukemi... ORPHA:2968
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Normocytic anemia, Normochromic anemia, Splenom... OMIM:235700
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Spherocytosis, Type 1
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:182900
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Splenomegaly OMIM:618892
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Myocardial infarction, Tran... OMIM:274150
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Reticulocytosis, Chronic hemolytic anemia, Splenomegaly OMIM:266200
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Mitral regurgitation, Abnormal left ventricular function, ... ORPHA:391665
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185000
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Hypertension, Thrombocytopenia, Schistocytosis OMIM:235400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Hypertension, Thrombocytopenia,... ORPHA:90038
Pearson Syndrome
Cardiac conduction abnormality, Abnormal heart morphology, Reticulocytosis, Neutropenia, Pancytop... ORPHA:699
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Lung Cancer
OMIM:211980
Breast Cancer
OMIM:114480

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 Casp8

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 Casp8.

No publications found that use IMPC mice or data for Casp8.

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MGI Allele Allele Type Produced
Casp8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Casp8em1(IMPC)Ccpcz Exon Deletion Mice

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