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Gene: Bspry MGI:2177191

Gene Summary

Name:

B-box and SPRY domain containing

Synonyms:

zetin 1

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased IgG2b level	Bspry^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.70×10^-06
increased IgG1 level	Bspry^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.90×10^-06
abnormal glucose homeostasis	Bspry^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.35×10^-06
increased IgE level	Bspry^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.50×10^-05

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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 Bspry 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 Bspry (0 diseases)
Human diseases predicted to be associated with Bspry (274 diseases)

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

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

Disease	Matching phenotypes	Source
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 24	Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,...	OMIM:615897
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating total IgM, Increased circulating IgE level, Increased circulating interleuk...	OMIM:618944
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket...	ORPHA:411593
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Kimura Disease	Increased circulating IgE level	ORPHA:482
Immunodeficiency 25	Increased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level	OMIM:619773
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level...	OMIM:608106
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating total IgM, Agamm...	OMIM:619707
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam...	OMIM:300400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ...	ORPHA:98813
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity	ORPHA:277
Immunodeficiency, Common Variable, 14	Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c...	OMIM:617765
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c...	OMIM:613502
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:620532
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr...	OMIM:619824
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Immunodeficiency 64 With Lymphoproliferation	Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgA level,...	OMIM:618534
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody...	ORPHA:449400
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:618987
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level...	OMIM:619752
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level	OMIM:620603
Transcobalamin Deficiency	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	ORPHA:859
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I...	OMIM:613493
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ...	ORPHA:169154
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,...	OMIM:615615
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c...	OMIM:612692
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve...	OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:620430
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr...	OMIM:618394
Immunodeficiency 109 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:620282
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency 10	Increased circulating IgG3 level, Increased circulating IgA level, Decreased circulating IgG leve...	OMIM:612783
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Type I di...	OMIM:606367
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:619510
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Type I diabetes mellitus	OMIM:304790
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating total IgA, Decreased circulating total IgM...	OMIM:618969
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:619924
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Increased hepatitis B virus antibody level	ORPHA:90003
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Increased circulating IgG ...	ORPHA:2298
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Decreased circulating total IgM, Increased circulating IgE level	OMIM:243700
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce...	OMIM:240500
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating total IgM, Reduced natural killer cell act...	OMIM:619281
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level	OMIM:615816
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve...	OMIM:603909
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,...	OMIM:618213
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ...	ORPHA:449432
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Papa Syndrome	Type I diabetes mellitus, Increased circulating antibody level	ORPHA:69126
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased circulating IgG level, ...	ORPHA:276
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:615758
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,...	OMIM:619774
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Absent specific antibody response, Decreased circulating total I...	OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:614069
Immunodeficiency 112	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:620449
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:607594
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level	ORPHA:2314
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Partial absen...	OMIM:620632
Pgm3-Cdg	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgA level...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr...	ORPHA:3261
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Hypoglycemia, Decreased circulating IgA level, Decreased circula...	OMIM:615577
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Decreased lymphocyte apoptosis	OMIM:614470
Lead Poisoning	Increased circulating IgE level, Abnormality of humoral immunity	ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:508533
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased circulating total IgA, Increased circulating antibody ...	ORPHA:169160
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgG level	OMIM:619705
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Increased circulating IgA level	OMIM:620565
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Decreased circulating antibody level, Decreased circulating IgG level, Incr...	OMIM:308240
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Increased circu...	OMIM:615559
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Monoclonal elevation of circulating IgA, Reduced circulating complem...	ORPHA:91139
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat...	ORPHA:329918
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes...	OMIM:301000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Type I diabetes mellitus	ORPHA:37042
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:616100
Agammaglobulinemia, X-Linked	Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam...	OMIM:300755
Igg4-Related Kidney Disease	Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci...	ORPHA:449395
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Myotonic Dystrophy 2	Decreased circulating total IgM, Type II diabetes mellitus, Decreased circulating IgG level, Insu...	OMIM:602668
Trichinellosis	Increased circulating IgE level	ORPHA:863
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Immunodeficiency 92	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal B cell proliferation, ...	OMIM:619652
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating tota...	ORPHA:436159
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level	OMIM:616005
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased ci...	ORPHA:331206
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:612782
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA	ORPHA:555905
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level	OMIM:301078
Tularemia	Increased circulating antibody level	ORPHA:3392
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Hypoglycemia	ORPHA:373
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Impaired neutrophil chemotaxis, Partial absence of specific antibody response to Haemophilus infl...	OMIM:618986
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c...	OMIM:614700
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c...	ORPHA:297
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:90362
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:619802
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Hypoglycemia, Decreased circulating IgA level, Decreased circula...	OMIM:607143
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Aapoaiv Amyloidosis	Diabetes mellitus, Paraproteinemia	ORPHA:439232
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase...	OMIM:256040
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:620040
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration	ORPHA:449427
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu...	ORPHA:35078
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Ataxia-Telangiectasia	Decreased circulating IgG level, Diabetes mellitus, Glucose intolerance, Decreased circulating Ig...	OMIM:208900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com...	ORPHA:79324
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 level	ORPHA:79078
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:79330
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:210900
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:612301
Poems Syndrome	Diabetes mellitus, Increased circulating antibody level	ORPHA:2905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul...	ORPHA:183675
Scleromyxedema	Paraproteinemia	ORPHA:167635
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Bloom Syndrome	Decreased circulating antibody level, Decreased circulating IgG level, Diabetes mellitus, Insulin...	ORPHA:125
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating a...	OMIM:300972
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Increased circulating IgM level	OMIM:617303
Mgat2-Cdg	Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le...	ORPHA:79329
Hyper-Igd Syndrome	Increased circulating IgA level, Increased circulating IgD level	OMIM:260920
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	ORPHA:420741
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Selective Igm Deficiency	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein...	ORPHA:331235
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Impaired neutrophil chemotaxis, Decreased circulating...	ORPHA:3132
Q Fever	Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased circula...	OMIM:242840
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG level	ORPHA:505248
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Postinfectious Vasculitis	Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Abnormal...	ORPHA:48435
Autoinflammatory Disease, Systemic, With Vasculitis	Decreased circulating total IgM, Decreased circulating IgA level, Increased circulating interleuk...	OMIM:620376
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:620005
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Increased circulating antibody level, Decrease...	ORPHA:289390
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level	OMIM:615846
Lysinuric Protein Intolerance	Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir...	ORPHA:470
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Type I diabetes mellitus	ORPHA:171
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Marburg Hemorrhagic Fever	Hypoglycemia, Increased circulating antibody level	ORPHA:99826
Gaucher Disease	Polyclonal elevation of IgM, Increased circulating antibody level	ORPHA:355
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	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 Bspry

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 Bspry.

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

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
Bspry^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Bspry^{tm1e(EUCOMM)Wtsi}	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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