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Gene: Brd1 MGI:1924161

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
bromodomain containing 1
Synonyms:
1110059H06Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Brd1 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 Brd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... OMIM:615234
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor OMIM:613561
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Pallor, Anemia ORPHA:163596
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu... OMIM:194380
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Hyperlysinemia, Type I
Anemia, Ectopia lentis OMIM:238700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... ORPHA:98870
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Hepatosplenomegaly OMIM:312500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... ORPHA:300298
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... OMIM:600462
Dermatitis, Atopic
Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin OMIM:603165
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Nephronophthisis
Anemia ORPHA:655
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... OMIM:607616
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Short stature, Splenomegaly, Jaundice, Patent ductus art... ORPHA:290
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Intrauterine growth retardation ORPHA:295
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Hydrocephalus, Jaundice, Anemia, Intrauterine growth... ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thro... OMIM:603552
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly ORPHA:99931
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Optic Atrophy 1
Pallor OMIM:165500
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Alpha-Heavy Chain Disease
Growth delay, Splenomegaly, Anemia, Hepatomegaly ORPHA:100025
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Anemia, Leukopenia, Dry skin, Thrombocytopenia OMIM:618116
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Hepatomegaly ORPHA:100024
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ... ORPHA:90051
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Anemia, Hepatomegaly ORPHA:2123
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura OMIM:614514
Thrombocytopenia 5
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276556
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura OMIM:620296
Fanconi Anemia, Complementation Group I
Short stature, Astigmatism, Pallor, Neutropenia, Intrauterine growth retardation OMIM:609053
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Developmental... ORPHA:124
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276580
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Patent ductus arteriosus, Anemia, Increased m... OMIM:617021
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia OMIM:616435
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... ORPHA:20
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura ORPHA:33226
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat... OMIM:606003
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Primary conge... OMIM:105650
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Congenital Heart Block
Intrauterine growth retardation, Patent ductus arteriosus, Pallor ORPHA:60041
Lathosterolosis
Hepatomegaly, Cataract, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Abnormal plat... ORPHA:46059
American Trypanosomiasis
Splenomegaly, Pallor, Hepatomegaly ORPHA:3386
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Triploidy
Hepatomegaly, Cataract, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormality of t... ORPHA:3376
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia ORPHA:75233
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia OMIM:618839
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... OMIM:600901
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... OMIM:227650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Short stature, Anemia, Neutropenia OMIM:617056
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly ORPHA:134
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Intrauterine ... OMIM:227645
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Pituitary Apoplexy
Normochromic anemia, Pallor, Mydriasis ORPHA:95613
Fumarase Deficiency
Conjunctival icterus, Intrahepatic cholestasis, Pallor, Hepatic failure, Polycythemia OMIM:606812
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Short stature, Hydrocephalus, Patent ductus arteriosus, Annular panc... OMIM:227646
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Thrombocytopenia, Neutropenia OMIM:617243
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... ORPHA:3260
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... OMIM:611881
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Cataract ORPHA:64754
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Retinitis Pigmentosa 51
Pallor OMIM:613464
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Dravet Syndrome
Pallor ORPHA:33069
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Hydrocephalus, Growth delay, Pallor, Anemia ORPHA:667
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Incontinentia Pigmenti
Cataract, Short stature, Eosinophilia, Keratitis, Leukocytosis, Erythema, Pallor OMIM:308300
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Anemia OMIM:618165
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... OMIM:210250
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia ORPHA:88
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Orthostatic Hypotension 2
Anemia OMIM:618182
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly, Cataract ORPHA:588
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... OMIM:260400
Camptodactyly Syndrome, Guadalajara Type 1
Microcornea, Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine gro... OMIM:611134
Nephronophthisis 11
Anisocoria, Growth delay, Hepatic fibrosis, Anemia OMIM:613550
Sheehan Syndrome
Normochromic anemia, Dry skin, Pallor ORPHA:91355
Wildervanck Syndrome
Meningocele, Lens subluxation ORPHA:3456
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation OMIM:603194
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Retinitis Pigmentosa 75
Pallor, Mixed astigmatism OMIM:617023
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele ORPHA:1759
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Microcornea, Ne... ORPHA:2839
Degcags Syndrome
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... OMIM:619488
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Meningocele, Short stature, Chorioretinal coloboma ORPHA:2031
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Lathosterolosis
Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac... OMIM:607330
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Hydrocephalus, Pallor, Megalocornea, Congenital aphakia ORPHA:137675
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia ORPHA:544482
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... ORPHA:2330
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia ORPHA:892
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Arima Syndrome
Hepatomegaly, Growth delay, Hepatic fibrosis, Chorioretinal coloboma, Cirrhosis, Occipital mening... OMIM:243910
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Tangier Disease
Corneal opacity, Hepatosplenomegaly, Anemia, Dry skin, Thrombocytopenia ORPHA:31150
Mosaic Trisomy 9
Corneal opacity, Spina bifida, Asplenia, Patent ductus arteriosus, Abnormal liver lobulation, Int... ORPHA:99776
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Coloboma OMIM:614424
Fountain Syndrome
Erythema, Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Focal Dermal Hypoplasia
Acute hepatic failure, Corneal opacity, Spina bifida, Ectopia lentis, Patent ductus arteriosus, E... ORPHA:2092
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Cataract, Short stature, Spina bifida, Hydrocephalus,... ORPHA:84
Tay-Sachs Disease
Pallor OMIM:272800
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Pallor ORPHA:29072
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Trisomy 18
Cataract, Short stature, Spina bifida, Anencephaly, Microcornea, Growth delay, Holoprosencephaly,... ORPHA:3380
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Hydrocephalus, Buphthalmos, Coloboma, Pallor, Opacification of the corneal stroma, Mega... OMIM:253280
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Spina bifida, Short stature, Pancreatic cysts, Thrombocy... OMIM:274000
Waardenburg Syndrome Type 1
Meningocele, Heterochromia iridis, Spina bifida ORPHA:894
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Childhood Absence Epilepsy
Pallor ORPHA:64280
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Nail-Patella Syndrome
Keratoconus, Cataract, Short stature, Spina bifida, Antecubital pterygium, Microcornea, Microphak... OMIM:161200
Neurocutaneous Melanocytosis
Meningocele, Chorioretinal coloboma ORPHA:2481
Limb Body Wall Complex
Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnor... ORPHA:2369
Jacobsen Syndrome
Cataract, Short stature, Spina bifida, Microcornea, Growth delay, Intrauterine growth retardation... ORPHA:2308
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Amish Lethal Microcephaly
Hepatomegaly, Spina bifida ORPHA:99742
Fibular Hemimelia
Thrombocytopenia, Abnormal anterior chamber morphology, Spina bifida ORPHA:93323
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Cataract, Spina bifida OMIM:616038
Alternating Hemiplegia Of Childhood
Pallor, Mydriasis ORPHA:2131
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Esophageal Atresia
Growth delay, Coloboma, Pallor ORPHA:1199
Hallermann-Streiff Syndrome
Cataract, Spina bifida, Proportionate short stature, Optic disc coloboma, Chorioretinal coloboma,... OMIM:234100
22Q11.2 Deletion Syndrome
Cataract, Short stature, Spina bifida, Splenomegaly, Hydrocephalus, Meningocele, Patent ductus ar... ORPHA:567
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Spina bifida ORPHA:1120
Neu-Laxova Syndrome
Cataract, Spina bifida, Lack of skin elasticity, Intrauterine growth retardation, Pterygium ORPHA:2671
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Iris coloboma ORPHA:2789
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Facial erythema, Nuclear cataract, Scaling skin, Dry skin ORPHA:1010
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Prominent corneal nerve fibers ORPHA:653
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Occipital encephalocele, Redundant neck skin, Short stature, Rhizo... ORPHA:397715
Lateral Meningocele Syndrome
Short stature, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia OMIM:130720
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Intrauterine growth retardation ORPHA:3412
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Abnormality of the spleen, Meningocele ORPHA:991
Knobloch Syndrome 1
Occipital encephalocele, Band keratopathy, Patent ductus arteriosus, Developmental cataract, Iris... OMIM:267750
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Blue irides, Hypoplastic iris stroma, Heterochromia iridis OMIM:193500
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cataract, Iris coloboma, Spina bifida OMIM:109400
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Tsh-Secreting Pituitary Adenoma
Pallor, Delayed puberty ORPHA:91347
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Neu-Laxova Syndrome 1
Cataract, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small placent... OMIM:256520
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Spina bifida, Coloboma, Retinal coloboma, Iris coloboma, Exocrine pancreatic insuf... ORPHA:508498
Rubinstein-Taybi Syndrome 1
Accessory spleen, Cataract, Short stature, Spina bifida, Postnatal growth retardation, Patent duc... OMIM:180849
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Iris coloboma OMIM:601707
Aicardi Syndrome
Cataract, Spina bifida, Postnatal growth retardation, Optic disc coloboma, Hepatoblastoma OMIM:304050
Marfan Syndrome
Flat cornea, Lens luxation, Ectopia lentis, Meningocele, Hypoplasia of the iris, Lens subluxation... ORPHA:558
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Retinal coloboma OMIM:616546
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hydrocephalus, Spina bifida, Developmental cataract ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hydrocephalus, Spina bifida, Developmental cataract ORPHA:363958
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Lisch nodules OMIM:162200
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr... ORPHA:573278
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Patent ductus arteriosus, Spina bifida OMIM:619480
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat... OMIM:114290
Otopalatodigital Syndrome, Type Ii
Cataract, Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, U... OMIM:304120
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... OMIM:192350
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Patent ductus arteriosus, Pallor ORPHA:99125
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820

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 Brd1

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 Brd1.

No publications found that use IMPC mice or data for Brd1.

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
Brd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Brd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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