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
increased freezing behavior Brapem1(IMPC)Mbp HET Early adult 3.52×10-18
embryonic growth retardation Brapem1(IMPC)Mbp HET E15.5 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
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
abnormal neural tube morphology Brapem1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Brapem1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube closure Brapem1(IMPC)Mbp HOM E9.5 0.00
edema Brapem1(IMPC)Mbp HET E15.5 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

Gross Morphology Embryo E9.5

Images

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

MicroCT E9.5

Embryo reconstruction

8 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
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Preeclampsia/Eclampsia 1
Hypertension, Edema, Intrauterine growth retardation OMIM:189800
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Kerion Celsi
Lymphadenopathy ORPHA:499
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Lymphatic Malformation 2
Lymphedema OMIM:611944
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 27A
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy ORPHA:391
White Sponge Nevus 2
Edema OMIM:615785
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Rhabdoid Tumor
Irritability, Lymphadenopathy ORPHA:69077
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Leishmaniasis
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:507
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Niemann-Pick Disease, Type A
Splenomegaly, Irritability, Lymphadenopathy OMIM:257200
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Nephroblastoma
Lymphadenopathy ORPHA:654
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Aregenerative Anemia
Depression, Emotional lability, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Gamma-Heavy Chain Disease
Splenomegaly, Dysphagia, Lymphadenopathy ORPHA:100026
Papa Syndrome
Lymphadenopathy ORPHA:69126
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:824
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:98850
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anorexia ORPHA:514
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Legionnaires Disease
Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy ORPHA:549
Alg3-Cdg
Neural tube defect ORPHA:79321
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Carney Triad
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy ORPHA:139411
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Irritability, Lymphadenopathy OMIM:267700
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Lymphadenopathy ORPHA:520
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Irritability, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Graft Versus Host Disease
Irritability, Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Familial Pancreatic Carcinoma
Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:1333
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph nod... ORPHA:50918
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:610377
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Waldenström Macroglobulinemia
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:33226
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Q Fever
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:781
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Agitation, Bone marrow hypocellularity OMIM:615688
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Hennekam Syndrome
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Systemic Lupus Erythematosus
Depression, Lymphadenopathy ORPHA:536
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Behçet Disease
Splenomegaly, Irritability, Anorexia, Lymphadenopathy ORPHA:117
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Brucellosis
Anorexia, Hypersplenism, Splenomegaly, Depression, Lymphadenopathy ORPHA:1304
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Anorexia, Lymphadenopathy OMIM:619381
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Crimean-Congo Hemorrhagic Fever
Anorexia, Splenomegaly, Lymphadenopathy, Agitation, Emotional lability ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Neoplasm of the thymus, Depression, Abnormal lymph node morphology, Emotional lability ORPHA:99889
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Marburg Hemorrhagic Fever
Aggressive behavior, Anorexia, Lymphadenopathy ORPHA:99826
Primary Sjögren Syndrome
Depression, Lymphadenopathy ORPHA:289390
African Trypanosomiasis
Aggressive behavior, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability ORPHA:3385
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Leptospirosis
Anorexia, Lymphadenopathy ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus ORPHA:93924
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340

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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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