Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calcineurin binding protein 1
Synonyms:
Ppp3in,  Cain,  A330070M20Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cabin1 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 Cabin1 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
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Increased circulating IgE l... OMIM:618944
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
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
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
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 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Candidiasis, Familial, 2
Increased circulating IgE level OMIM:212050
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
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
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level ORPHA:277
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
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, 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
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgE level, Inc... ORPHA:449400
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level OMIM:618523
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
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
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Netherton Syndrome
Decreased circulating antibody level, Increased circulating IgE level ORPHA:634
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
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
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Decr... OMIM:606367
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Caffey Disease
Increased circulating antibody level ORPHA:1310
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Increased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Aspergillosis
Increased circulating IgE level ORPHA:1163
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Dysgammaglobulinemia, Decr... OMIM:308240
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating specific ... ORPHA:74
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Pgm3-Cdg
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgA level... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Increased circulating IgE level, De... OMIM:618213
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased lymphocyte proli... ORPHA:169160
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
C3 Glomerulopathy
Decreased serum complement C3, Paraproteinemia, Decreased serum complement C4 ORPHA:329918
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C3, Increased circulating antibody level, Decreased serum complement C... OMIM:615559
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:301000
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Decreased serum complement C4,... ORPHA:449395
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Trichinellosis
Increased circulating IgE level ORPHA:863
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Increased circulating IgA ... ORPHA:29073
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
Leishmaniasis
Increased circulating antibody level ORPHA:507
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA ORPHA:555905
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
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Tularemia
Increased circulating antibody level ORPHA:3392
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Increased circulating IgA level OMIM:617099
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:613011
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Part... OMIM:618986
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Pneumocystosis
Increased circulating antibody level ORPHA:723
Familial Hemophagocytic Lymphohistiocytosis
Increased serum interferon-gamma level, Decreased circulating antibody level, Abnormality of seru... ORPHA:540
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
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgG level, Increased circulating IgA l... ORPHA:2298
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormal serum interleukin level, Abnormality of tumor necro... ORPHA:70578
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Acute Lung Injury
Increased circulating interleukin 6, Abnormality of serum cytokine level, Abnormality of tumor ne... ORPHA:178320
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Increased circulating antibody level, Increased circulati... OMIM:256040
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Ataxia-Telangiectasia
Defective B cell differentiation, Decreased circulating IgG level, Decreased circulating IgG2 lev... OMIM:208900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:614700
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgG2 level, C... OMIM:242840
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Scleromyxedema
Paraproteinemia ORPHA:167635
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Increased circulating IgM level, Decreased circulating ... ORPHA:2442
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Bone marrow hypocellularity OMIM:617303
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Mevalonic Aciduria
Increased circulating IgD level OMIM:610377
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Selective Igm Deficiency
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein... ORPHA:331235
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Bone marrow hypocellularity, Decreased circulating IgG level ORPHA:505248
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Cysticercosis
Increased circulating antibody level ORPHA:1560
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
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Q Fever
Increased circulating antibody level, Cryoglobulinemia ORPHA:781
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Primary Sjögren Syndrome
Cryoglobulinemia, Decreased circulating antibody level, Increased circulating antibody level, Dec... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Decreased circulating antibody level, Complement deficiency, Inc... ORPHA:470
Gaucher Disease
Increased circulating antibody level ORPHA:355
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM 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 Cabin1

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 Cabin1.

No publications found that use IMPC mice or data for Cabin1.

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MGI Allele Allele Type Produced
Cabin1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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