Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lymphocyte transmembrane adaptor 1
Synonyms:
E430019B13Rik

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 Lax1 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 Lax1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia OMIM:212050
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Increased circ... OMIM:608106
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... OMIM:618495
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Decreased circulating IgA level, Sclerosing cholangi... OMIM:308230
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, I... OMIM:614470
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Lymphadenopathy, Decreas... OMIM:240500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level OMIM:618048
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Reduced red cell adenosine deam... OMIM:102700
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... OMIM:308240
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Decreased circulating IgA level, Lymphadenopathy, T lymphocytopenia, Decreased... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Thrombocytopenia 1
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... OMIM:313900
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Increased circ... OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Increased circulating antibody level, Thrombocytopenia, Splenomegaly OMIM:615846
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, D... OMIM:617514
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, ... OMIM:616100
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Igg4-Related Submandibular Gland Disease
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas... ORPHA:449432
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... OMIM:617388
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatitis B virus antibody... ORPHA:90003
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Hepatitis, Decreased lymphocyte... ORPHA:169160
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... OMIM:613496
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... ORPHA:331206
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased circulating IgG level, Acute hepatitis, ... ORPHA:2137
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Reduced natural killer cell activity, Impa... OMIM:619374
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Immunodeficiency 23
Neutropenia, Increased circulating IgG level, Increased circulating IgE level, Increased circulat... OMIM:615816
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Impaired T cell function OMIM:201100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Panhypogammaglobulinemia, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... ORPHA:586
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Multiple Myeloma
Increased circulating IgA level, Lymphadenopathy, Decreased circulating antibody level, Anemia, I... ORPHA:29073
Tularemia
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Increased c... ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Increa... ORPHA:562639
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Cutaneous anergy, Panhypogammaglobulinemia, Viral h... OMIM:209920
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Lymphadenopathy, Decreased serum complement C4, Lymphadeniti... ORPHA:449395
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le... ORPHA:330015
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Lymph node hypopl... OMIM:613179
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to ... ORPHA:508533
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement ... ORPHA:91139
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Iron deficien... ORPHA:37042
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 ORPHA:329918
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Igg4-Related Ophthalmic Disease
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Pancrea... ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho... OMIM:617591
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... ORPHA:77259
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Immunodeficiency 47
Hepatomegaly, Decreased circulating total IgA, Hepatic fibrosis, Decreased circulating total IgG,... OMIM:300972
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Sp... OMIM:614576
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia ORPHA:555905
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neut... OMIM:260920
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Increased circulating IgG4 level, Sclerosing cholangitis, Pancreatic fi... ORPHA:64744
Trichinellosis
Increased circulating IgE level ORPHA:863
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Complement deficiency, Eosinophilia ORPHA:449427
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Acute pancreatitis, Thr... ORPHA:319218
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... OMIM:612301
Ataxia-Telangiectasia
Decreased circulating IgA level, Leukemia, Defective B cell differentiation, Decreased circulatin... OMIM:208900
Rift Valley Fever
Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytop... ORPHA:319251
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hepatoblastoma, Splenomegaly, Pancreatic islet-cell hyperplasia, Increased circulat... ORPHA:373
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased proport... OMIM:242840
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Anemia, Abnorm... ORPHA:284
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Thymic Aplasia
Decreased proportion of naive T cells, Lymphadenopathy, Coombs-positive hemolytic anemia, Decreas... ORPHA:83471
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... ORPHA:2298
Brucellosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, Anemia, Increased circul... ORPHA:1304
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Increased c... ORPHA:228123
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... ORPHA:186
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating... ORPHA:79078
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Leukemia, Decreased circulating... OMIM:210900
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Anemia, F... OMIM:610377
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6, Increased circulating IgA level, Lymphadenopat... OMIM:256040
Q Fever
Hepatomegaly, Cryoglobulinemia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Abnormality of ... ORPHA:781
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Macrove... OMIM:617303
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... ORPHA:1830
Gaucher Disease Type 3
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:77261
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenom... ORPHA:99827
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Dec... ORPHA:183675
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Poems Syndrome
Lymphadenopathy, Thrombocytosis, Increased circulating antibody level, Polycythemia ORPHA:2905
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Increased circulating antibody level, Ge... OMIM:181000
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Decreased circulating IgA level, Decreased circul... OMIM:212065
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Scleromyxedema
Paraproteinemia ORPHA:167635
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Riddle Syndrome
Decreased circulating IgA level, Generalized lymphadenopathy, Decreased circulating IgG level, De... ORPHA:420741
Al Amyloidosis
Hepatomegaly, Anemia, Abnormality of the liver, Increased circulating antibody level, Howell-Joll... ORPHA:85443
Immunodeficiency 58
Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re... OMIM:618131
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Alg12-Cdg
B lymphocytopenia, Complete or near-complete absence of specific antibody response to tetanus vac... ORPHA:79324
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... ORPHA:125
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... OMIM:619472
Primary Sjögren Syndrome
Chronic active hepatitis, Normocytic anemia, Thrombocytopenia, Cryoglobulinemia, Leukopenia, Lymp... ORPHA:289390
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Hepatosplenomeg... ORPHA:505248
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Cirrhosis, Decreased circu... ORPHA:90363
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... ORPHA:3132
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... ORPHA:91500
Lysinuric Protein Intolerance
Hepatomegaly, Leukopenia, Decreased circulating antibody level, Anemia, Pancreatitis, Hepatic amy... ORPHA:470
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Aplastic anemia, Acute lymphobl... OMIM:223370
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Postinfectious Vasculitis
Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Viral he... ORPHA:48435
Cysticercosis
Increased circulating antibody level ORPHA:1560
Gaucher Disease
Hepatomegaly, Hepatitis, Anemia, Splenomegaly, Cirrhosis, Increased circulating antibody level, P... ORPHA:355
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Marburg Hemorrhagic Fever
Leukopenia, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocyte morpholog... ORPHA:99826
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... ORPHA:99829
Digeorge Syndrome
Abnormality of the thymus, Cholelithiasis, Impaired T cell function OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Abnormality of the tonsils, Cholelithiasis, S... ORPHA:567
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level, Absent gallbladder ORPHA:500150

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 Lax1

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 Lax1.

No publications found that use IMPC mice or data for Lax1.

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MGI Allele Allele Type Produced
Lax1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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