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Gene: Cd8a MGI:88346

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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:
CD8 subunit alpha
Synonyms:
Ly-B,  Ly-2,  Lyt-2,  Ly-35

Order Alleles

IMPC Data Collections

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

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.

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 Cd8a 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 Cd8a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957

The table below shows human diseases predicted to be associated to Cd8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ... OMIM:620378
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Recurrent acute respiratory tract infection, Peripheral demyelination ORPHA:231445
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, Onion bu... OMIM:607734
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme... OMIM:606483
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Immunodeficiency 11A
Recurrent respiratory infections, Decreased circulating antibody level, Agammaglobulinemia, Reduc... OMIM:615206
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Charcot-Marie-Tooth Disease, Type 4A
Axonal degeneration, Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased num... OMIM:214400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber... OMIM:118210
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Persistent CMV vir... OMIM:300853
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Abnormal natural killer cell count, Abnormal prop... OMIM:212050
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt... OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118220
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Null Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination ORPHA:280234
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Increased circulating IgG level, Leukocytosis, Diffuse peripheral... ORPHA:206594
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Persistent EBV viremia, Recur... OMIM:617514
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Segmental peripheral demyelination/remyelination, Hypertrophic nerve changes OMIM:601098
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Peripheral axonal atrophy, Onion bulb formation, Decreased numb... OMIM:605588
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n... OMIM:608340
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Onion bulb formation, Axonal loss OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Abnormal cranial nerve morphology, Facial palsy, Basal lamina onion bulb for... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Axonal degeneration/regeneration, Onion bulb formation, Decreased... OMIM:607706
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Myelin outfoldings, Irregular myelin loops OMIM:601382
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Clusters... ORPHA:101097
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:604563
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Recurrent vulvovaginal candidiasis, Decreased propo... ORPHA:331235
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Peripheral demyelination OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Increased circulating ... OMIM:618982
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral myelinated ... OMIM:605285
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regene... OMIM:609260
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, R... OMIM:615518
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination OMIM:249900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymphopenia, A... ORPHA:276
Abetalipoproteinemia
CNS demyelination, Acanthocytosis, Peripheral demyelination OMIM:200100
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, T lymphocytopenia, Decrease... ORPHA:572
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease Type 4G
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:99953
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral hypomyelination, Peripheral demyelination, Axonal dege... OMIM:604168
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Onion bulb formation OMIM:615035
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Krabbe Disease
Optic atrophy, Autoimmune thrombocytopenia, Peripheral demyelination, CNS demyelination OMIM:245200
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia OMIM:616287
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Recurren... OMIM:619774
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i... OMIM:209920
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Axonal degeneration/regeneration, Peripheral axonal atrophy, Decreased number of peripheral myeli... OMIM:600882
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Lymphopenia, Recurrent bronchopulmonary infections, T... OMIM:242700
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Sensory axonal neuropathy, Decreased number of peripheral myelinated nerve f... ORPHA:98856
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocyt... ORPHA:35078
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Recurrent urinary tract infections, Peripheral demyelination OMIM:609033
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... OMIM:618986
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss OMIM:221770
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, T lymphocytop... OMIM:619510
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Leukodystrophy, Peripheral demyelination OMIM:614877
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Splenomegaly, Peripheral demyelination OMIM:205400
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Chr... OMIM:616005
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Onion bulb formation OMIM:607684
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Splenome... OMIM:308230
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Segmental peripheral demyelination/remyelination, Axonal loss OMIM:601455
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Mening... ORPHA:217260
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Myelin outfoldings OMIM:615284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers OMIM:607250
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Axon... OMIM:604484
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG... ORPHA:275
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells OMIM:615767
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Decreased circulating total IgM, Increased circulating IgG level,... OMIM:243700
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Onion bulb formation, Decreased number of peripheral myelinated n... OMIM:302800
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Axonal dege... OMIM:615490
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Persis... OMIM:613011
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly... ORPHA:443811
Multiple Sulfatase Deficiency
CNS demyelination, Splenomegaly, Peripheral demyelination OMIM:272200
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe... ORPHA:320406
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent urinary trac... OMIM:613179
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral hypomyelination, Cerebral dysmyelination, Demyelinating peripheral neuropathy, Hepatos... OMIM:609136
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Recurrent lower respiratory tract infections, Decreased circula... OMIM:615758
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Facial diplegia, Axonal degene... OMIM:218000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination OMIM:250100
Charcot-Marie-Tooth Disease Type 4A
Demyelinating peripheral neuropathy, Chronic axonal neuropathy, Decreased number of large periphe... ORPHA:99948
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination ORPHA:48431
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve f... OMIM:271245
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers ORPHA:90103
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Motor axonal neuropathy, Facial palsy, Decreased number of peripheral ... OMIM:256850
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site ORPHA:168563
Peho Syndrome
Optic atrophy, Peripheral dysmyelination OMIM:260565
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Severe demyelination of the white matter, ... ORPHA:79282
Molybdenum Cofactor Deficiency, Complementation Group B
Peripheral demyelination, Axonal loss OMIM:252160
Glutaric Acidemia I
Delayed myelination, Symmetrical progressive peripheral demyelination OMIM:231670
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:162400
Molybdenum Cofactor Deficiency, Complementation Group A
Peripheral demyelination, Axonal loss OMIM:252150
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo... OMIM:208920
Spastic Ataxia, Charlevoix-Saguenay Type
Hypermyelinated retinal nerve fibers, Onion bulb formation, Decreased number of large peripheral ... OMIM:270550
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Mitochondrial Neurogastrointestinal Encephalomyopathy
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Anemia, Decreased number of la... ORPHA:298
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Recurrent infections, Recurrent ear infections, Delayed myelination, Neurofibroma, Leukodystrophy... OMIM:619475
Immunodeficiency 58
Chronic mucocutaneous candidiasis, Decreased circulating antibody level, Molluscum contagiosum, O... OMIM:618131
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Abnormal lymphocyte physi... ORPHA:1830
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Onion bulb formation, Optic neuropathy ORPHA:320375
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Abnormal myelination, M... ORPHA:466768
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Optic nerve hypoplasia, Mixed d... ORPHA:101085
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Cockayne Syndrome B
Optic atrophy, Splenomegaly, Peripheral dysmyelination, Patchy demyelination of subcortical white... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Splenomegaly, Peripheral dysmyelination, Patchy demyelination of subcortical white... OMIM:216400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination OMIM:220111
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Demyelinating peripheral neuropathy, Facial paralysis, Decreased number of periphe... ORPHA:99949
Bohring-Opitz Syndrome
Recurrent infections, Delayed peripheral myelination OMIM:605039
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Recurrent infections due to aspiration OMIM:223900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Splenomegaly, Impaired T cell function OMIM:201100
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Myelin outfoldings ORPHA:99956
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers OMIM:256810
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Choreoacanthocytosis
Peripheral axonal neuropathy, Abnormal erythrocyte enzyme concentration or activity, Decreased nu... ORPHA:2388
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Pancytopenia, Optic neuropathy, Splenomegaly, Abnormality o... OMIM:181000
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Digeorge Syndrome
Impaired T cell function OMIM:188400

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 Cd8a

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 Cd8a.

No publications found that use IMPC mice or data for Cd8a.

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