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Gene: Slamf6 MGI:1353620

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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:
SLAM family member 6
Synonyms:
SF2000,  KAL1b,  KAL1,  Ly108,  NTB-A

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 Slamf6 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 Slamf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... OMIM:615897
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Chronic mucocutaneous candidias... OMIM:613953
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu... ORPHA:98813
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Recurrent urinary tract... OMIM:613179
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... OMIM:618986
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... ORPHA:83471
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Abnormal circulat... OMIM:618048
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... ORPHA:277
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 12
Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent ... OMIM:615468
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis OMIM:260570
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... OMIM:618935
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... OMIM:116920
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... ORPHA:183675
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc... OMIM:615816
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... OMIM:612840
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... ORPHA:169090
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Decreased circulating coppe... OMIM:300972
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Reduced natural killer cell activity, S... OMIM:608233
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... OMIM:242840
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... ORPHA:2968
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Postinfectious Vasculitis
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... ORPHA:48435
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Anemia, Leukopenia, Recur... OMIM:617053
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... OMIM:248500
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... ORPHA:470
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Elevated circulating creatine kinase concentration, Splen... OMIM:614576
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Recurrent bacteri... OMIM:615895
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri... ORPHA:66628
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri... ORPHA:179494
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Decreased serum zinc, Impaired T cell function, Recurrent candida infections OMIM:201100
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Meningitis, Recurrent bacterial infections ORPHA:36412
Glycogen Storage Disease Ib
Splenomegaly, Hyperlipidemia, Recurrent bacterial infections, Hyperuricemia, Neutropenia OMIM:232220
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperlipidemia, Recur... ORPHA:1830
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Chromomycosis
Recurrent bacterial infections ORPHA:182
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... ORPHA:542323
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Recurrent bacterial infections, Hyperu... ORPHA:79259
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function, Recurrent infections OMIM:192430
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia OMIM:181000
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Hypopl... OMIM:188400
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia ORPHA:642
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis ORPHA:79318

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 Slamf6

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 Slamf6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The receptor Ly108 functions as a SAP adaptor-dependent on-off switch for T cell help to B cells and NKT cell development. Immunity (June 2012) Slamf6tm1(KOMP)Mbp PMC3389310

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MGI Allele Allele Type Produced
Slamf6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slamf6tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Slamf6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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