Gene Summary

Name:
B-box and SPRY domain containing
Synonyms:
zetin 1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased IgG1 level Bsprytm1a(EUCOMM)Wtsi HOM Early adult 1.90×10-06
abnormal glucose homeostasis Bsprytm1a(EUCOMM)Wtsi HOM   Early adult 5.35×10-06
increased IgG2b level Bsprytm1a(EUCOMM)Wtsi HOM   Early adult 7.70×10-06
increased IgE level Bsprytm1a(EUCOMM)Wtsi HOM Early adult 1.50×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
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
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Insulin Autoimmune Syndrome
Increased circulating antibody level, Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive... ORPHA:411593
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Abnormality of humoral immunity ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating IgG level OMIM:243700
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:619510
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
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 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level OMIM:618048
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Decreased serum complement fac... ORPHA:2298
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Increased hepatitis B virus antibody level ORPHA:90003
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Increased circulating IgG level OMIM:615816
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Increased circulating IgG level, Inc... ORPHA:449432
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Absent specific antibody response, Decreased circulating total I... OMIM:102700
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Type I diabetes mellitus ORPHA:69126
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Caffey Disease
Increased circulating antibody level ORPHA:1310
Aspergillosis
Increased circulating IgE level ORPHA:1163
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgE level, Defective T cell proliferation, Inc... OMIM:618213
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Pgm3-Cdg
Increased circulating IgA level, Increased circulating IgG level, Reduced antigen-specific T cell... ORPHA:443811
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
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
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Decr... ORPHA:3261
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... OMIM:615577
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating anti... OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Incr... ORPHA:91139
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... OMIM:615559
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia ORPHA:329918
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:616100
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased... ORPHA:449395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Type I diabetes mellitus ORPHA:37042
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgA level... OMIM:619652
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
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level OMIM:616005
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:331206
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level ORPHA:275
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level OMIM:301078
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Increased circulating IgE level ORPHA:449563
Leishmaniasis
Increased circulating antibody level ORPHA:507
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Increased circulating IgE level ORPHA:373
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Tularemia
Increased circulating antibody level ORPHA:3392
Rift Valley Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:613011
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:614700
Immunodeficiency 97 With Autoinflammation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Pneumocystosis
Increased circulating antibody level ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620040
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Aapoaiv Amyloidosis
Diabetes mellitus, Paraproteinemia ORPHA:439232
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency ORPHA:449427
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Ataxia-Telangiectasia
Glucose intolerance, Decreased circulating IgA level, Decreased circulating IgG level, Defective ... OMIM:208900
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Lassa Fever
Increased circulating IgM level ORPHA:99824
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Coccidioidomycosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:228123
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level ORPHA:79078
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:612301
Poems Syndrome
Increased circulating antibody level, Diabetes mellitus ORPHA:2905
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Vici Syndrome
Decreased T cell activation, Cutaneous anergy, Decreased circulating IgG level, Decreased circula... OMIM:242840
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:79330
Scleromyxedema
Paraproteinemia ORPHA:167635
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... ORPHA:2442
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... OMIM:300972
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:210900
Brucellosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:1304
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:125
Mgat2-Cdg
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:79329
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG 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
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Decreased circulating total IgM, Paraprotein... ORPHA:331235
Mevalonic Aciduria
Increased circulating IgD level OMIM:610377
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Q Fever
Increased circulating antibody level, Cryoglobulinemia ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM level ORPHA:505248
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Cysticercosis
Increased circulating antibody level ORPHA:1560
Postinfectious Vasculitis
Increased circulating antibody level, Cryoglobulinemia, Increased circulating IgA level, Abnormal... ORPHA:48435
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620005
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level OMIM:223370
Primary Sjögren Syndrome
Increased circulating antibody level, Decreased serum complement C3, Complement deficiency, Decre... ORPHA:289390
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Polyclonal elevation of IgM ORPHA:171
Lysinuric Protein Intolerance
Complement deficiency, Abnormality of humoral immunity, Decreased circulating antibody level, Inc... ORPHA:470
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Marburg Hemorrhagic Fever
Hypoglycemia, Increased circulating antibody level ORPHA:99826
Gaucher Disease
Increased circulating antibody level ORPHA:355
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829
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 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

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MGI Allele Allele Type Produced
Bsprytm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Bsprytm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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