Gene Summary

Name:
BRCA1 associated protein
Synonyms:
3010002G07Rik

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
abnormal neural tube closure Brapem1(IMPC)Mbp HOM E9.5 0.00
enlarged lymph nodes Brapem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Brapem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Brapem1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube morphology Brapem1(IMPC)Mbp HOM E9.5 0.00
abnormal lymph node morphology Brapem1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Brapem1(IMPC)Mbp HOM   E15.5 0.00
edema Brapem1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Brapem1(IMPC)Mbp HET E15.5 0.00
increased freezing behavior Brapem1(IMPC)Mbp HET Early adult 3.52×10-18

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

MicroCT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Brap 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 Brap by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Lipedema
Edema OMIM:614103
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Preeclampsia/Eclampsia 1
Hypertension, Intrauterine growth retardation, Edema OMIM:189800
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Lymphatic Malformation 2
Lymphedema OMIM:611944
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Mycosis Fungoides
Lymphadenopathy OMIM:254400
White Sponge Nevus 2
Edema OMIM:615785
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalize... OMIM:615559
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Mild postnatal growth retardation, Chylous ascites, Palpebral edema, N... OMIM:265300
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Rhabdoid Tumor
Lymphadenopathy, Irritability ORPHA:69077
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Tularemia
Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal a... ORPHA:3392
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Niemann-Pick Disease, Type A
Lymphadenopathy, Irritability, Splenomegaly OMIM:257200
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Aregenerative Anemia
Depression, Bone marrow hypocellularity, Lymphadenopathy, Emotional lability ORPHA:101096
Nephroblastoma
Lymphadenopathy ORPHA:654
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:616843
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:911
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:618935
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Aneurysm Of Sinus Of Valsalva
Edema, Aortic regurgitation, Congestive heart failure, Heart murmur ORPHA:1054
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Alg3-Cdg
Neural tube defect ORPHA:79321
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:619802
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Castleman Disease
Generalized lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Irritability, Splenomegaly OMIM:267700
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Irritability, Splenomegaly OMIM:603553
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Irritability ORPHA:39812
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Hepatosplenomegaly OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:260920
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Mevalonic Aciduria
Hepatosplenomegaly, Lymphadenopathy, Fluctuating splenomegaly OMIM:610377
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Lymphatic Filariasis
Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Kikuchi-Fujimoto Disease
Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Chikungunya
Depression, Lymphadenopathy, Cervical lymphadenopathy, Diminished motivation ORPHA:324625
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:602782
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Lymphadenopathy, Splenomegaly OMIM:619418
Cherubism
Submandibular lymph node enlargement OMIM:118400
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Q Fever
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:781
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils ORPHA:31150
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615688
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Lymphadenopathy... ORPHA:3261
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocel... ORPHA:2442
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphangioma, Lymphadenopathy, Splenomegaly ORPHA:2136
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:167
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormality of the lymph nodes, Depression, Anxiety, Panic attack, Neoplasm of the thymus, Suicid... ORPHA:99889
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Brucellosis
Depression, Lymphadenopathy, Hypersplenism, Splenomegaly ORPHA:1304
Behçet Disease
Lymphadenopathy, Irritability, Splenomegaly ORPHA:117
African Trypanosomiasis
Apathy, Splenomegaly, Hepatosplenomegaly, Anxiety, Aggressive behavior, Lymphadenopathy, Irritabi... ORPHA:3385
Primary Sjögren Syndrome
Depression, Anxiety, Lymphadenopathy ORPHA:289390
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Plague
Enlarged mesenteric lymph node, Splenomegaly, Depression, Lymphadenitis, Anxiety ORPHA:707
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Splenomegaly, Emotional lability ORPHA:99827
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Marburg Hemorrhagic Fever
Lymphadenopathy, Aggressive behavior ORPHA:99826
Sarcoidosis
Lymphadenopathy, Abnormality of the lymph nodes ORPHA:797
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Leptospirosis
Lymphadenopathy ORPHA:509

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 Brap

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 Brap.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Brapem1(IMPC)Mbp Exon Deletion Mice, Tissue

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