Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytotoxic and regulatory T cell molecule
Synonyms:
class I-restricted T cell-associated molecule

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 Crtam 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
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
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
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
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... ORPHA:169079
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... OMIM:613953
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... OMIM:620632
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
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased... OMIM:312863
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... ORPHA:331206
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... ORPHA:98813
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... OMIM:608184
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... ORPHA:277
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... ORPHA:319552
Immunodeficiency 48
Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ... OMIM:269840
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections OMIM:619693
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... ORPHA:83471
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
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
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre... OMIM:300400
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ... OMIM:615468
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... ORPHA:79124
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... ORPHA:35078
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... OMIM:300291
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Pa... OMIM:307200
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Immunodeficiency 66
Meningitis, Sepsis, Defective T cell proliferation OMIM:618847
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell a... OMIM:619281
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr... OMIM:613179
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Recurrent infections, Increased circulating interleukin 10 concentration OMIM:613759
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmu... OMIM:620565
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:603909
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... OMIM:615607
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, D... ORPHA:221139
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... ORPHA:486
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Wiskott-Aldrich Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Increased circulating IgE level, Recur... OMIM:301000
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... OMIM:603585
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... OMIM:617475
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... OMIM:608233
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto... OMIM:615010
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... ORPHA:540
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 co... OMIM:620514
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... OMIM:612840
Immunodeficiency 40
Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Reduced antigen-specific T c... OMIM:616433
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... ORPHA:169090
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... OMIM:618131
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... OMIM:116920
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... OMIM:306400
Omenn Syndrome
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... OMIM:603554
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... ORPHA:66628
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... ORPHA:179494
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... OMIM:214500
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... OMIM:612541
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Heme Oxygenase 1 Deficiency
Sepsis, Coombs-positive hemolytic anemia, Thrombocytosis, Increased circulating interleukin 6 con... OMIM:614034
Acute Lung Injury
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... ORPHA:178320
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic an... OMIM:619573
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio... OMIM:617053
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Incr... ORPHA:811
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Invasive fungal infection, Leukocytosis, Splen... ORPHA:90051
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg... ORPHA:391487
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Neutrophilic Dermatosis, Acute Febrile
Anemia, Increased circulating interleukin 6 concentration OMIM:608068
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ... OMIM:620376
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, Leukocytosis... ORPHA:544482
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections OMIM:615895
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Recurrent... ORPHA:470
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... OMIM:147060
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... OMIM:256040
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Chromomycosis
Recurrent bacterial infections ORPHA:182
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Yellow Fever
Opportunistic infection, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inte... ORPHA:99829
Glycogen Storage Disease Ib
Recurrent bacterial infections, Splenomegaly, Neutropenia OMIM:232220
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Castleman Disease
Anemia, Decreased mean corpuscular volume, Increased circulating interleukin 6 concentration, Thr... ORPHA:160
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Recurrent bacterial infections ORPHA:79259
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomegaly, Recurrent si... OMIM:188400
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia ORPHA:567
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess ORPHA:642

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 Crtam

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 Crtam.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Short Disordered Epitope of CRTAM Ig-Like V Domain as a Potential Target for Blocking Antibodies. International journal of molecular sciences (November 2020) Crtamtm1(KOMP)Mbp PMC7699905
CRTAM Shapes the Gut Microbiota and Enhances the Severity of Infection. Journal of immunology (Baltimore, Md. : 1950) (May 2019) Crtamtm1(KOMP)Mbp 31142601

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Crtamtm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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