Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
B and T lymphocyte associated
Synonyms:
N/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 Btla 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 Btla by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level OMIM:242870
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased circ... OMIM:619220
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:601859
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Myeloma, Multiple
Paraproteinemia OMIM:254500
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:603909
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia OMIM:618495
Immunodeficiency 62
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:619707
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Proteasome-Associated Autoinflammatory Syndrome 2
Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor... OMIM:618048
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:613502
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Antinuclear antibody positivi... ORPHA:90280
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... OMIM:613493
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive OMIM:209950
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Autoi... OMIM:240500
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Systemic lupus erythematosus OMIM:613783
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... OMIM:300400
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:620282
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:612692
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Autoim... ORPHA:277
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, In... OMIM:612783
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmune thrombocytopenia, Decreased lymphocyte apoptosis, Autoimmunity, Increased circulating ... OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... ORPHA:169154
Autoimmune Hepatitis
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... ORPHA:2137
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level, Antinuclear antibody positivity... OMIM:617388
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Anti-liver cytosolic antigen type 1 antibody positivity, Antinuclear antibody positivity, Anti-sm... ORPHA:562639
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Neutr... OMIM:607594
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Autoimmunity ORPHA:169079
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Decreased specific pneumococcal antibody level, Complete or near-com... OMIM:613496
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:618394
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Sting-Associated Vasculopathy, Infantile-Onset
Cytoplasmic antineutrophil antibody positivity, Antiphospholipid antibody positivity, Antinuclear... OMIM:615934
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:619281
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Anti-thyroglobulin antibody positivity, Decreased circulating Ig... OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Autoimmunity, Autoimmune hemolytic anemia, Increased cir... OMIM:615559
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid... ORPHA:275
C3 Glomerulopathy
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Decreased circu... ORPHA:329918
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Caffey Disease
Increased circulating antibody level ORPHA:1310
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 112
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620449
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:620632
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Au... OMIM:616100
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level ORPHA:397596
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Increased circulating IgG level, Autoimmunity, Decreased circula... OMIM:243700
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Immunodeficiency 43
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... OMIM:241600
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto... ORPHA:64744
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level... OMIM:615816
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:331206
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased circula... OMIM:615758
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia OMIM:619705
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level... OMIM:616005
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Autoimmunity, Autoimmune h... OMIM:613011
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:301081
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... OMIM:300853
Pyoderma Gangrenosum
Rheumatoid arthritis, Increased circulating antibody level ORPHA:48104
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmune antibody pos... ORPHA:555905
Pgm3-Cdg
Bone marrow hypocellularity, Increased circulating IgE level, Autoimmunity, Increased circulating... ORPHA:443811
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:169160
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... OMIM:308240
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Au... ORPHA:436159
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level OMIM:620603
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Antine... OMIM:301078
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level, Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in p... OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity ORPHA:2902
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:572
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Systemic lupus erythematosus, Autoimmuni... ORPHA:2298
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612782
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Prolidase Deficiency
Systemic lupus erythematosus, Increased circulating antibody level OMIM:170100
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, A... ORPHA:79078
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Ne... OMIM:619802
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune... OMIM:304790
Igg4-Related Kidney Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449395
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Leishmaniasis
Increased circulating antibody level ORPHA:507
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level ORPHA:83600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati... OMIM:618986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Tularemia
Increased circulating antibody level ORPHA:3392
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased specific antibody res... OMIM:614700
Pneumocystosis
Increased circulating antibody level ORPHA:723
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Immunodeficiency 17
Chronic decreased circulating IgG2, Autoimmune hemolytic anemia OMIM:615607
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Q Fever
Anticardiolipin IgG antibody positivity, Antimitochondrial antibody positivity, Increased circula... ORPHA:781
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... OMIM:102700
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... ORPHA:297
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Reduced circulating complement concentration ORPHA:449427
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr... ORPHA:183675
Selective Igm Deficiency
Rheumatoid arthritis, Systemic lupus erythematosus, Paraproteinemia, Autoimmunity, Decreased spec... ORPHA:331235
Autoimmune Polyendocrinopathy Type 4
Rheumatoid arthritis, Autoimmunity, Antiphospholipid antibody positivity, Autoimmune thrombocytop... ORPHA:227990
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Lassa Fever
Increased circulating IgM level ORPHA:99824
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Abnormal circ... OMIM:620376
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level, Autoimmune thrombocytopenia, Au... OMIM:620565
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Autoimmunity, Hashimoto thyroiditis, Antiphospholipid antibody positivity, ... ORPHA:227982
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Antinuclear antibody positivity, Increased circulating IgG4 level ORPHA:449563
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive ORPHA:1304
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Autoimmunity, Autoimmune hemolytic anemia, Anti-liver cytosolic ... ORPHA:37042
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... ORPHA:221139
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating IgA level, Autoimmunity, Decreased circul... ORPHA:90363
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Primary Biliary Cholangitis
Autoimmunity, Antinuclear antibody positivity, Increased circulating IgA level, Increased circula... ORPHA:186
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... OMIM:613179
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:79329
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Orotic Aciduria
Impaired T cell function OMIM:258900
Postinfectious Vasculitis
Abnormality of humoral immunity, Increased circulating antibody level, Cytoplasmic antineutrophil... ORPHA:48435
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio... OMIM:208900
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function ORPHA:1830
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... OMIM:618131
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l... ORPHA:3132
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... OMIM:242840
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level ORPHA:505248
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Autoimmunity, Oligoclonal T cell expan... ORPHA:83471
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Primary Sjögren Syndrome
Anti-Ro/SS-A antibody positivity, Reduced circulating complement concentration, Decreased circula... ORPHA:289390
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level OMIM:619472
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Reduced circulating complement concentration, Increased circulat... ORPHA:470
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr... ORPHA:544482
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... OMIM:619381
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration ORPHA:391487
Digeorge Syndrome
Impaired T cell function OMIM:188400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Btla

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 Btla.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Btlatm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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