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
increased IgE level Bsprytm1a(EUCOMM)Wtsi HOM Early adult 1.50×10-05
decreased circulating cholesterol level Bsprytm1a(EUCOMM)Wtsi HOM   Early adult 3.79×10-05
increased IgG2b level Bsprytm1a(EUCOMM)Wtsi HOM   Early adult 7.70×10-06

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
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Reduced C-reactive protein level, Increased circulating interleu... OMIM:618944
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 IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Candidiasis, Familial, 2
Decreased serum iron, Increased circulating IgE level OMIM:212050
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Kimura Disease
Increased circulating IgE level ORPHA:482
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia 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
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
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
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level ORPHA:277
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia OMIM:241600
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Immunodeficiency 27A
Hypoalbuminemia, Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia OMIM:600351
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgG2 level, Absent specific antibody respo... OMIM:102700
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Netherton Syndrome
Decreased circulating antibody level, Increased circulating IgE level ORPHA:634
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Decr... OMIM:606367
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... OMIM:617388
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Increased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Aspergillosis
Increased circulating IgE level ORPHA:1163
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Caffey Disease
Increased circulating antibody level ORPHA:1310
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Increased circulating antibody level, Hypoalbuminemia, Inc... ORPHA:86816
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level, Increased LDL cholesterol conce... ORPHA:330015
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Elevated c... OMIM:618156
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Dysgammaglobulinemia, Decr... OMIM:308240
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating specific ... ORPHA:74
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Pgm3-Cdg
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgA level... ORPHA:443811
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
C3 Glomerulopathy
Elevated circulating creatinine concentration, Decreased serum complement C3, Paraproteinemia, De... ORPHA:329918
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C3, Increased circulating antibody level, Decreased serum complement C... OMIM:615559
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Increased circulating IgE level, De... OMIM:618213
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Decreased circulating IgA level, Hypocholestero... OMIM:212065
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... OMIM:615934
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Elevated circulating creatinin... ORPHA:449395
Multiple Myeloma
Decreased circulating antibody level, Elevated circulating creatinine concentration, Hyperprotein... ORPHA:29073
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased lymphocyte proli... ORPHA:169160
Autoimmune Hepatitis
Increased total bilirubin, Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Increased circulating IgE level, Decreased prealbumin level, Abnormal blood ion con... ORPHA:37042
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:301000
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Leishmaniasis
Increased circulating antibody level, Hypoalbuminemia ORPHA:507
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Trichinellosis
Increased circulating IgE level ORPHA:863
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating antibody level, Decreased cir... OMIM:613011
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Abet... ORPHA:96180
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Decreased serum complement factor B, Abnormal circulating lipid concentratio... ORPHA:2298
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Elevated circulating C-reactive protein concentration, Increased... OMIM:617099
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Increased... ORPHA:449563
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
Tularemia
Increased circulating antibody level ORPHA:3392
Igg4-Related Pachymeningitis
Complement deficiency, Elevated circulating C-reactive protein concentration, Increased circulati... ORPHA:449427
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Part... OMIM:618986
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Increased circulating antibody level, Increased circulati... OMIM:256040
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased lymphocyte proliferation in response t... ORPHA:35078
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Hypertriglyceridemia OMIM:617591
Ataxia-Telangiectasia
Defective B cell differentiation, Decreased circulating IgG2 level, Elevated alpha-fetoprotein, D... OMIM:208900
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Pneumocystosis
Increased circulating antibody level ORPHA:723
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Aapoaiv Amyloidosis
Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Increased circulating ferritin concentration, Increased... ORPHA:2442
Primary Biliary Cholangitis
Increased circulating IgM level, Conjugated hyperbilirubinemia, Abnormal circulating lipid concen... ORPHA:186
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:614700
Scleromyxedema
Elevated circulating creatine kinase concentration, Paraproteinemia ORPHA:167635
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgG2 level, C... OMIM:242840
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... OMIM:606002
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Cystic Echinococcosis
Increased circulating antibody level, Hyperbilirubinemia ORPHA:400
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Bone marrow hypocellularity, Hypoalbuminemia OMIM:617303
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia OMIM:270400
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating C-reactive... ORPHA:1304
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:420741
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Increased circulating IgD level, Elevated cir... OMIM:610377
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level, Hyponatremia ORPHA:79139
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Elevated circulating creatinine concentration, Increased ci... ORPHA:91500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Bone marrow hypocellularity, Hypoalbuminemia, Decreased circulat... ORPHA:505248
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Selective Igm Deficiency
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein... ORPHA:331235
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:125
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Q Fever
Increased circulating antibody level, Cryoglobulinemia ORPHA:781
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Cysticercosis
Increased circulating antibody level ORPHA:1560
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Primary Sjögren Syndrome
Cryoglobulinemia, Decreased circulating antibody level, Increased circulating antibody level, Dec... ORPHA:289390
Gaucher Disease
Increased circulating antibody level, Elevated circulating C-reactive protein concentration ORPHA:355
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Hypoalbuminemia ORPHA:171
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

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