Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SAM domain, SH3 domain and nuclear localization signals, 1
Synonyms:
4930571B16Rik,  Hacs1

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 Samsn1 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 Samsn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Increased alpha-globulin OMIM:235900
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M proteinemia, Cryogl... ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly OMIM:618495
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Increased circulating IgE level OMIM:212050
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count ORPHA:100024
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lack of T ce... ORPHA:277
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Elev... OMIM:617099
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia ORPHA:83313
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Neutropenia OMIM:600351
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia OMIM:241600
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Hypereosinophilia, Elevated circula... OMIM:617388
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Lymphopenia, ... OMIM:615816
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Caffey Disease
Increased circulating antibody level ORPHA:1310
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation OMIM:618042
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope... ORPHA:507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, El... OMIM:615934
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Le... OMIM:617303
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased circulating bet... ORPHA:572
Multiple Myeloma
Decreased circulating antibody level, Elevated circulating creatinine concentration, Hyperprotein... ORPHA:29073
C3 Glomerulopathy
Elevated circulating creatinine concentration, Decreased serum complement C3, Paraproteinemia, De... ORPHA:329918
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Primary Biliary Cholangitis
Increased circulating IgM level, Conjugated hyperbilirubinemia, Abnormal circulating lipid concen... ORPHA:186
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Tick-Borne Encephalitis
Increased circulating IgM level, Leukocytosis, Abnormality of serum cytokine level, Thrombocytope... ORPHA:297
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Autoimmune Hepatitis
Increased total bilirubin, Increased circulating antibody level, Increased circulating IgG level,... ORPHA:2137
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level, Hypereosinophilia OMIM:256500
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Tularemia
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocytopenia, Anemia, ... ORPHA:3392
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Iga Pemphigus
Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula... ORPHA:555905
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Thrombocytopenia, Hypoalbuminemia, Leukopenia, Anemia, Decreased... ORPHA:505248
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Increased circulating antibody level, Hypoalbuminemia, Inc... ORPHA:86816
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level, Hyponatremia ORPHA:79139
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia OMIM:209920
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Anemia... OMIM:617591
Bloom Syndrome
Decreased circulating total IgM, Leukemia, Decreased circulating IgG level, Decreased circulating... OMIM:210900
Prolidase Deficiency
Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly OMIM:170100
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Decreased serum complement factor B, Abnormal circulating lipid concentratio... ORPHA:2298
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Elevated circulating C-reactive protein concentration, Incre... ORPHA:449427
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Py... OMIM:258900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased specific antibody response to vaccination, Decreased circulating antibody level, Decrea... ORPHA:221139
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total IgM, Decreased... OMIM:612301
Brucellosis
Lung abscess, Increased circulating IgM level, Thrombocytosis, Leukocytosis, Granuloma, Thrombocy... ORPHA:1304
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Splenomegaly, Leukemia, Monoclon... ORPHA:33226
Coccidioidomycosis
Increased circulating IgM level, Granuloma, Increased circulating IgG level, Abnormality of the s... ORPHA:228123
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Elevated circulating creatinin... ORPHA:449395
Netherton Syndrome
Decreased circulating antibody level, Increased circulating IgE level ORPHA:634
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Gaucher Disease Type 1
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hyper... ORPHA:77259
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hypertriglyceridemia, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Hyperbilirubinemia, Splenic cyst, Absce... ORPHA:400
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Microcytic anemia, Increased circulating antibody level, ... OMIM:256040
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hypertriglyceridemia, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Thrombocytopenia, Impaired T cell function... OMIM:614576
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly ORPHA:171
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Thrombocytopenia, Elevated circulating C-reactive protein... OMIM:610377
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Scleromyxedema
Elevated circulating creatine kinase concentration, Paraproteinemia ORPHA:167635
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Aspergillosis
Increased circulating IgE level, Neutropenia, Eosinophilia ORPHA:1163
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... OMIM:606002
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Aapoaiv Amyloidosis
Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:420741
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia, Decreased circulating IgA level, Decreased ... OMIM:212065
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Bloom Syndrome
Abnormal proportion of CD8-positive T cells, Decreased circulating antibody level, Acute myeloid ... ORPHA:125
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgE level, Elevated circulating C-reactive protein concentrat... ORPHA:449563
Poems Syndrome
Increased circulating antibody level, Polycythemia, Thrombocytosis ORPHA:2905
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbumine... ORPHA:85443
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Abnormal T cell morphology, Imb... ORPHA:330015
Gaucher Disease Type 3
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:77261
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Anemia, Live... ORPHA:284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Hypocalcemia, Reduced proportion of CD4-negative, CD8-negative, alpha-bet... ORPHA:37042
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... ORPHA:3132
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Q Fever
Cryoglobulinemia, Increased circulating antibody level, Granuloma, Thrombocytopenia, Anemia, Sple... ORPHA:781
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased serum interferon-gamma level, Abnormality of interleukin secretion, Elevated circulatin... ORPHA:542323
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Elevated circulating creatinine concentration, Reduced hema... ORPHA:91500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Hypertriglyceridemia, Hypercalcemia, Decreased circulating IgA l... ORPHA:369837
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Cysticercosis
Increased circulating antibody level ORPHA:1560
Dubowitz Syndrome
Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgG level, Decreased circula... OMIM:223370
Primary Sjögren Syndrome
Cryoglobulinemia, Decreased circulating antibody level, Increased circulating antibody level, Dec... ORPHA:289390
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Splenomegaly, Abnormality of T cell physiology OMIM:181000
Trichinellosis
Increased circulating IgE level ORPHA:863
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Gaucher Disease
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Elevated circulating C-reac... ORPHA:355
Velocardiofacial Syndrome
Impaired T cell function, Hypocalcemia OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Simpson-Golabi-Behmel Syndrome
Polysplenia, Increased circulating IgE level, Splenomegaly ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level 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 Samsn1

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 Samsn1.

No publications found that use IMPC mice or data for Samsn1.

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MGI Allele Allele Type Produced
Samsn1tm88284(L1L2_Bact_P) Targeting vectors
Samsn1em1(IMPC)Ics Exon Deletion Mice

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