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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 bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... 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
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation 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
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased... 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 determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... OMIM:607734
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Immunodeficiency 48
Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ... OMIM:269840
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination 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
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn... OMIM:212050
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... OMIM:118220
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy 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, Peripheral demyelination, Decreased number of peripheral myeli... OMIM:614895
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Null Syndrome
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Immunodeficiency 19
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... OMIM:615617
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Leukocytosis, Severe infection, Axonal loss, Demyelinating motor neurop... ORPHA:206594
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... 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
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601098
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... OMIM:605588
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... 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 specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Peripheral demyelination ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased... OMIM:607706
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... 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
Irregular myelin loops, Facial palsy, Myelin outfoldings OMIM:601382
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... ORPHA:101097
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... ORPHA:331235
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp... OMIM:605285
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... OMIM:615607
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:609260
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... OMIM:300400
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... 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
Peripheral demyelination, CNS 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 upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Abetalipoproteinemia
Peripheral demyelination, Acanthocytosis, CNS demyelination OMIM:200100
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy 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
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Axonal degeneration, Peripheral hypomye... OMIM:604168
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Krabbe Disease
Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia, CNS demyelination OMIM:245200
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp... ORPHA:169160
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Wiskott-Aldrich Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hypersensitivity skin... 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
Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myeli... OMIM:600882
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... ORPHA:98856
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination, Recurrent urinary tract infections OMIM:609033
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination OMIM:221770
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Tangier Disease
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia, Splenomegaly OMIM:205400
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy ORPHA:101082
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... ORPHA:83471
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Onion bulb formation OMIM:607684
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation 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, Meningitis, Abnormal proportion of CD4-positive T c... 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
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:604484
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... 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
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy 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, Axonal degeneration, Decreased number of pe... OMIM:302800
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination, Splenomegaly OMIM:272200
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... OMIM:613179
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Peripheral demyelination, Peripheral hypomyelination, Demyelinating periphera... OMIM:609136
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Demyelinating pe... OMIM:218000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination OMIM:250100
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... 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
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... 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
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, 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
Peripheral dysmyelination, Optic atrophy OMIM:260565
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sev... ORPHA:79282
Molybdenum Cofactor Deficiency, Type B
Axonal loss, Peripheral demyelination OMIM:252160
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination 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, Type A
Axonal loss, Peripheral demyelination 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
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Hypermyelinated retinal nerve fiber... 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
Anemia, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fiber... 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
Neurofibroma, Leukodystrophy, Peripheral demyelination, Recurrent infections, Recurrent ear infec... OMIM:619475
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... OMIM:618131
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:255210
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Optic neuropathy, Onion bulb formation ORPHA:320375
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Motor axonal neuropathy... ORPHA:466768
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased number... ORPHA:101085
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... 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, Peripheral dysmyelination, Splenomegaly, Abnormal peripheral myelination, Patchy d... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Peripheral dysmyelination, Splenomegaly, Abnormal peripheral myelination, Patchy d... OMIM:216400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Demyelinating peripheral neuropathy, 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
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Recurrent candida infections 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
Acanthocytosis, Splenomegaly, Decreased number of peripheral myelinated nerve fibers, Peripheral ... ORPHA:2388
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... 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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