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Gene: Skap2 MGI:1889206

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

src family associated phosphoprotein 2

Synonyms:

Saps, 2610021A10Rik, mSKAP55R, SKAP-HOM, RA70

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Skap2 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.

Human diseases associated with Skap2 (0 diseases)
Human diseases predicted to be associated with Skap2 (314 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Skap2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Attention ...	OMIM:300310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Reduced isohemagglutinin level, Dec...	OMIM:618459
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Sneddon Syndrome	Mental deterioration, Decreased circulating total IgM, Antiphospholipid antibody positivity	OMIM:182410
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulati...	ORPHA:98813
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Immunodeficiency, Common Variable, 1	Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased circula...	OMIM:607594
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Peri...	OMIM:618394
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:601859
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In...	OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:619220
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Decreased circulating total IgM, Anti-thyroglobulin ...	OMIM:615577
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu...	OMIM:618534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, D...	OMIM:616100
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Decreased specific pneumococcal antibody level	OMIM:617006
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Decreased circul...	ORPHA:331206
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Rasmussen Subacute Encephalitis	Hyperactivity, Autoimmunity, Antinuclear antibody positivity, Memory impairment, Irritability, An...	ORPHA:1929
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Immunodeficiency 22	Autoimmunity, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating I...	OMIM:615758
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Irritability, Decreased circula...	OMIM:275350
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:436159
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Autoimmune thrombocytopenia, Decreased circulating antibody level	OMIM:619846
Immunodeficiency, Common Variable, 2	Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci...	OMIM:240500
Cernunnos-Xlf Deficiency	Autoimmunity, Decreased circulating antibody level	ORPHA:169079
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Antinuclear antibody positivity, Anti-thyroid peroxidase antibod...	OMIM:618048
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Progressive neurologic deterioration, Decreased circulating antibody level	ORPHA:85317
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:603909
Immunodeficiency 48	Panhypogammaglobulinemia	OMIM:269840
Immunodeficiency 109 With Lymphoproliferation	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Comp...	OMIM:620282
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:619802
Immunodeficiency 52	Autoimmune thrombocytopenia, Decreased circulating antibody level	OMIM:617514
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive, Ano...	OMIM:209950
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Dysphagia, Decreased circulatin...	OMIM:620040
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Xq28 (MECP2) duplication	Depression, Abnormal repetitive mannerisms, Dysphagia, Decreased circulating IgA level	DECIPHER:45
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia	OMIM:608184
Selective Igm Deficiency	Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Paraproteinemia, Neut...	ORPHA:331235
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au...	ORPHA:3261
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level	ORPHA:397596
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6...	OMIM:300853
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating total IgM, Decrea...	OMIM:614700
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level	OMIM:616576
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ...	ORPHA:277
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur...	OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Incr...	OMIM:102700
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Hashimoto thyroidit...	ORPHA:275
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th...	OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Increased circulating antibody level, Decreased lymphocyte proliferation in response to...	ORPHA:169160
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Autoimmunity, Systemic lupus erythematosus, Decreased circulating total IgM, Rheumatoid arthritis...	ORPHA:183675
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Maternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Panhypogammaglobulinemia	ORPHA:251009
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant...	OMIM:613011
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o...	OMIM:615952
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Decreased circulating antibody level	OMIM:617780
Igg4-Related Aortitis	Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti...	ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia	OMIM:601457
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o...	ORPHA:572
Adult Idiopathic Neutropenia	Increased circulating IgM level, Antineutrophil antibody positivity	ORPHA:2688
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Autoimmunity, Decreased circula...	OMIM:616005
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Dementia, Attention deficit hyperactivity disorder, Dysphagia, Mental deterio...	ORPHA:52368
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Autoimmune hemolytic anemia, Autoimmunity	OMIM:618495
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Riddle Syndrome	Decreased circulating total IgM, Emotional lability, Decreased circulating IgG level, Decreased c...	ORPHA:420741
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Ataxia-Telangiectasia	Cognitive impairment, Decreased circulating antibody level	ORPHA:100
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Decreased c...	ORPHA:90363
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Depression, Decreased circulating antibody level	OMIM:604928
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Thymoma	Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Anti-acetylcholi...	ORPHA:99867
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:2137
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Angiostrongyliasis	Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati...	ORPHA:74
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Reduced natural killer cell activity, Increased circulating IgA leve...	OMIM:301000
Hereditary Folate Malabsorption	Anorexia, Decreased circulating antibody level	ORPHA:90045
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level	ORPHA:353298
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level	OMIM:615122
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG,...	ORPHA:91139
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Decreased circulating IgG level, Bone marrow hypocellularity, Antine...	OMIM:301078
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Liver Failure, Infantile, Transient	Irritability, Decreased circulating IgG level	OMIM:613070
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level	OMIM:619750
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Lassa Fever	Increased circulating IgM level, Dysphagia	ORPHA:99824
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Macrocephaly/Autism Syndrome	Short attention span, Decreased circulating antibody level	OMIM:605309
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
X-Linked Agammaglobulinemia	Agammaglobulinemia, Autoimmunity	ORPHA:47
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level	OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Attention deficit hyperact...	OMIM:617062
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level	OMIM:601495
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased lymphocyte proliferation in response to anti-CD3, Increase...	OMIM:606367
Immunodeficiency 12	Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Good Syndrome	Dysphagia, Decreased circulating antibody level	ORPHA:169105
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Decreased circulating IgA level	ORPHA:457485
Autoimmune Polyendocrinopathy Type 4	Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib...	ORPHA:227990
Igg4-Related Thyroid Disease	Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti...	ORPHA:64744
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anorexia, Decreased circulating total IgM, Decreased lymphocyte ...	OMIM:619381
Tick-Borne Encephalitis	Anorexia, Depression, Increased circulating IgG level, Increased circulating IgM level, Diminishe...	ORPHA:297
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase...	ORPHA:540
Autosomal Agammaglobulinemia	Agammaglobulinemia	ORPHA:33110
Autoimmune Polyendocrinopathy Type 3	Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune antib...	ORPHA:227982
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part...	OMIM:618986
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Cognitive impairment	ORPHA:935
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Dysphagia, Decr...	OMIM:618131
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Primary Biliary Cholangitis	Antinuclear antibody positivity, Increased circulating IgM level, Autoimmunity, Increased circula...	ORPHA:186
Mgat2-Cdg	Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:79329
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Autoimmunity, Hashimoto thyroiditis, Decreased circulating IgA level	OMIM:613385
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level	OMIM:242900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level	OMIM:617425
Celiac Disease, Susceptibility To, 1	Depression, Decreased circulating IgA level	OMIM:212750
Japanese Encephalitis	Cognitive impairment, Increased circulating IgM level, Increased circulating antibody level, Anor...	ORPHA:79139
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Igg4-Related Dacryoadenitis And Sialadenitis	Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti...	ORPHA:79078
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Decreased circulating antibody level, Agitation, Bone marrow hypocellularity, Lupus anticoagulant...	OMIM:615688
Common Variable Immunodeficiency	Autoimmune thrombocytopenia, Decreased circulating antibody level	ORPHA:1572
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Anorexia	ORPHA:319251
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Igg4-Related Submandibular Gland Disease	Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Autoimmune antibody positivity, Autoimmune thrombocytopenia, Decreased circulating antibody level	ORPHA:293978
Lipodystrophy, Congenital Generalized, Type 4	Dysphagia, Decreased circulating IgA level	OMIM:613327
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2	OMIM:615607
Cowden Syndrome 1	Decreased circulating antibody level	OMIM:158350
Lysinuric Protein Intolerance	Antinuclear antibody positivity, Decreased circulating antibody level, Abnormality of humoral imm...	ORPHA:470
Primary Sjögren Syndrome	Decreased circulating antibody level, Depression, Dementia, Decreased circulating complement C3 c...	ORPHA:289390
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati...	ORPHA:79124
Ataxia-Telangiectasia	Decreased circulating IgG2 level, Decreased circulating IgG level, Defective B cell differentiati...	OMIM:208900
Nijmegen Breakage Syndrome	Hyperactivity, Dysgammaglobulinemia, Autoimmune hemolytic anemia	OMIM:251260
Dubowitz Syndrome	Short attention span, Hyperactivity, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:223370
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia	OMIM:307200
Vici Syndrome	Decreased circulating IgG level, Decreased T cell activation, Dysphagia, Cutaneous anergy, Decrea...	OMIM:242840
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Trichohepatoenteric Syndrome 1	Cognitive impairment, Decreased circulating antibody level	OMIM:222470
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Brucellosis	Rheumatoid factor positive, Anorexia, Depression, Increased circulating IgG level, Increased circ...	ORPHA:1304
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Cartilage-Hair Hypoplasia	Cognitive impairment, Decreased circulating antibody level	ORPHA:175
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Decreased circulating IgG level	OMIM:618278
Primary Sclerosing Cholangitis	Depression, Autoimmunity, Polyclonal elevation of IgM	ORPHA:171
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level	ORPHA:79396
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level, Cognitive impairment	ORPHA:228123
Crimean-Congo Hemorrhagic Fever	Confusion, Anorexia, Increased circulating IgG level, Increased circulating IgM level, Agitation,...	ORPHA:99827
Trichothiodystrophy	Panhypogammaglobulinemia	ORPHA:33364
Hennekam Syndrome	Decreased circulating antibody level	ORPHA:2136
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased circulating antibody level	ORPHA:247598
Syndromic Diarrhea	Panhypogammaglobulinemia	ORPHA:84064
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level	OMIM:274000
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level	ORPHA:99843
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency, Dysphagia	ORPHA:500150
Sponastrime Dysplasia	Decreased circulating antibody level	ORPHA:93357
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Dysphagia, Decreased circulatin...	OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal repetitive mannerisms, Bruxism, Dysphagia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Abnormal repetitive mannerisms, Bruxism, Dysphagia, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal repetitive mannerisms, Bruxism, Dysphagia, Decreased circulating antibody level	ORPHA:261552

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 Skap2

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 Skap2.

No publications found that use IMPC mice or data for Skap2.

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
Skap2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Skap2^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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