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

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 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
Decreased circulating IgG level, T lymphocytopenia, 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 protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Persistent viremi... OMIM:615897
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Increased alpha-globulin, Histiocytosis OMIM:235900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infect... OMIM:616022
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Decreased circulat... ORPHA:169079
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune hemolytic anemia, Recurrent bacterial in... OMIM:608184
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Sepsis... OMIM:267500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Disseminated nontuberculous mycobacterial infecti... ORPHA:319552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Recurrent bacterial infections... OMIM:608957
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Reduced antigen-specific T cell... ORPHA:331206
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Recurrent res... OMIM:616005
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233710
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Parti... OMIM:618986
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Abnormality of B cell p... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:233690
Thymic Aplasia
Severe infection, Invasive fungal infection, Recurrent urinary tract infections, Opportunistic in... ORPHA:83471
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymp... ORPHA:277
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Wiskott-Aldrich Syndrome 2
Recurrent infections, Reduced natural killer cell activity, Defective T cell proliferation, Decre... OMIM:614493
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Eosinophilia, Cutaneous abscess,... OMIM:147060
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:610738
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Recurrent viral infections, Recurrent bacterial infections, Spleno... OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Recurrent viral infections, Decreased proportion of CD4+CD... OMIM:606367
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Recurrent urinary tract infection... ORPHA:331235
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Increased circulating IgG level, Hepatospl... OMIM:618534
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Recurrent mycobacterial infections,... ORPHA:911
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Reduced red cell adenosine deaminase level,... OMIM:102700
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Rectal abscess, Recurrent Asperg... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Onychomycosis, Recurrent tonsillit... OMIM:618935
Ch├ędiak-Higashi Syndrome
Pancytopenia, Recurrent streptococcal infections, Abnormal leukocyte morphology, Anemia, Abnormal... ORPHA:167
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Recurre... ORPHA:183675
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, T lymphocytopenia, Absent n... OMIM:600802
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Anemia,... OMIM:617475
Immunodeficiency 66
Defective T cell proliferation, Sepsis, Meningitis OMIM:618847
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neut... OMIM:214500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, T lymphocy... ORPHA:35078
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Recurrent ear infections, Recurrent viral infections, Leukemia, Recurr... ORPHA:486
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Eosinophilia, Increased circulating IgG level, Increa... OMIM:615816
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, S... ORPHA:169090
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Recurrent viral infections, Recurre... OMIM:242840
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Splenomegaly, Anemia, Sepsis, E... OMIM:612840
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Decreased ... ORPHA:221139
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Mastocytosis, Increased proportion of CD25+ mast cells ORPHA:98848
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Splenomegaly, Spontan... OMIM:613470
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Impaired ADP-induced pl... OMIM:608233
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent bacterial infections... ORPHA:51636
Leukocyte Adhesion Deficiency
Leukocytosis, Bone marrow hypocellularity, Impaired platelet aggregation, Impaired neutrophil che... ORPHA:2968
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity,... OMIM:242700
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent infections, L... OMIM:300972
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Recurrent bacterial infections, Recurrent staphylococcal infections... OMIM:116920
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Recurrent bacterial infections, Splenomegaly, Neutropenia, Recurrent res... OMIM:612541
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Increased serum bile acid concentration, Recurrent viral infections, Bo... ORPHA:811
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia, Recurrent bacterial infections OMIM:244460
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Recurrent upper respiratory trac... OMIM:600903
Mirage Syndrome
Hypoplastic spleen, Hyponatremia, Leukopenia, Hyperkalemia, Recurrent bacterial infections, Anemi... OMIM:617053
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Recurrent upper respiratory tract infections, H... OMIM:618131
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Vacuolated ly... OMIM:248500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Recurrent bacterial infections OMIM:241410
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Recurrent infections, Splenomegaly, Impaired T cell function, Elevated circulating ... OMIM:614576
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Abnormal lymphocyte proliferation, Recurrent viral infections, Severe cytomegaloviru... OMIM:619573
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Hypochromic anemia, Increased circulating IgG level, Leukocytosis, T... OMIM:618213
Lysinuric Protein Intolerance
Anemia, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, Increased circ... ORPHA:470
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... ORPHA:66628
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Recurrent bacterial infections, Splenomegaly,... OMIM:603903
Glycogen Storage Disease Ib
Neutropenia, Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia OMIM:232220
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... ORPHA:179494
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Recurrent candida infections, Impaired T cell function, Splenomegaly OMIM:201100
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Splenomegaly, Meningitis ORPHA:36412
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Hyperlipidemia, Bone marrow hypocellularity, Abnormal lymphocyte physiology... ORPHA:1830
Mastocytosis
Chronic leukemia, Mastocytosis, Hypercalcemia, Splenomegaly, Acute leukemia ORPHA:98292
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Asplenia, Recurrent sinopulmonary inf... ORPHA:244
Chromomycosis
Recurrent bacterial infections ORPHA:182
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Elevated ... ORPHA:542323
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, Recurrent bacterial infections, Hyperu... ORPHA:79259
Orotic Aciduria
Poikilocytosis, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function,... OMIM:258900
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Transient hypogammaglobulinemia ... ORPHA:3132
Velocardiofacial Syndrome
Impaired T cell function, Hypocalcemia, Recurrent infections OMIM:192430
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Abnormality of T cell physiology ORPHA:2237
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent infections, Recurrent bacterial infections ORPHA:2273
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Pancytopenia, Splenomegaly, Abnormality of T cell physiology OMIM:181000
Digeorge Syndrome
Recurrent pneumonia, Recurrent infections, Recurrent otitis media, Hypocalcemia, Splenomegaly, Im... 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, Impaired neutrophil chemotaxis, Hypoalbuminemia 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.

No publications found that use IMPC mice or data for Slamf6.

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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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