Gene Summary

Name:
bromo adjacent homology domain containing 1
Synonyms:
LOC228536

IMPC Data Collections

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 CD4-negative NK T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 1.63×10-06
decreased total retina thickness Bahd1tm2b(KOMP)Wtsi HET Early adult 1.18×10-05
increased memory-marker CD4-negative NK T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 6.66×10-06
hypoactivity Bahd1tm2b(KOMP)Wtsi HET Early adult 8.40×10-05
decreased effector memory CD8-positive, alpha-beta T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 1.91×10-05
decreased leukocyte cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 3.11×10-05
increased T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 2.34×10-07
increased startle reflex Bahd1tm2b(KOMP)Wtsi HET Early adult 4.46×10-06
increased NK cell number Bahd1tm2b(KOMP)Wtsi HET   Early adult 4.53×10-05
increased neutrophil cell number Bahd1tm2b(KOMP)Wtsi HET   Early adult 2.28×10-05
decreased lymphocyte cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 7.64×10-07
increased NK T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 1.38×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Immunophenotyping

Panel A FCS file(s)

10 Images

Immunophenotyping

Panel B FCS file(s)

10 Images

Human diseases caused by Bahd1 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 Bahd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis OMIM:610181
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Glutathione Synthetase Deficiency
Neutropenia, Intention tremor, Ataxia, Pigmentary retinopathy, Hemolytic anemia OMIM:266130
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Hypopigmentation of the fundus, Leukopenia OMIM:614171
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Ataxia, Pancyt... OMIM:159550
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis OMIM:616871
Retinal Venous Beading
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Abnormal distri... OMIM:180080
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Neutropenia OMIM:616949
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Folate Malabsorption, Hereditary
Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Progressive Multifocal Leukoencephalopathy
Dysmetria, Gait ataxia, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-... ORPHA:217260
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Ataxia, Abnormal T cell subset distribution, Pancytopenia, Thr... ORPHA:158048
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmu... ORPHA:760
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia OMIM:616050
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormality of the optic nerve, Acute leukemia, Splenomegaly, Myeloproliferative di... ORPHA:3226
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Dystonia, Neutropenia, Anemia, Thrombocytopenia, Lethargy ORPHA:289916
Ataxia-Telangiectasia
Tremor, Gait disturbance, Ataxia, Lymphopenia ORPHA:100
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Leukopenia, Lethargy OMIM:243500
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Macrocytic anemia, Leukopenia, Anemia, Ataxia, Thrombocytopenia, Lethargy ORPHA:27
Amed Syndrome, Digenic
Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia, Attention deficit hyperactivity dis... OMIM:619151
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia ORPHA:86843
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Dystonia, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Lethargy ORPHA:79312
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... ORPHA:79124
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia ORPHA:391307
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorrhage ORPHA:88
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Tremor... OMIM:613179
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a... ORPHA:572
Chediak-Higashi Syndrome
Gait disturbance, Neutropenia, Leukopenia, Ocular albinism, Abnormal dense granules, Giant neutro... OMIM:214500
Hermansky-Pudlak Syndrome 2
Neutropenia, Ocular albinism, Enlarged platelet dense granules, Absent platelet dense granules, S... OMIM:608233
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Waddling gait, Lymphopenia, Thrombocytopenia OMIM:242900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Ataxia-Telangiectasia
Dystonia, Leukemia, Hypoplasia of the thymus, Tremor, Ataxia, Decreased proportion of CD4-positiv... OMIM:208900
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia, Lethargy ORPHA:36238
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia, Lethargy ORPHA:319218
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... ORPHA:2442
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia OMIM:617575
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Lethargy OMIM:275350
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Optic nerve hypoplasia, Intention tremor, Reduced natural killer cell count, A... ORPHA:221139
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Methylmalonic Aciduria, Cbla Type
Neutropenia, Anemia, Tremor, Pancytopenia, Thrombocytopenia, Lethargy OMIM:251100
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly ORPHA:829
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Inability to walk, Hypereosinophilia, Decreased proportion of CD4-positive helper T... ORPHA:508533
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Ataxia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Immunodeficiency 23
Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Abnormality of retinal pigmentation, Gait disturbance, N... ORPHA:167
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Lymphopenia, Leukopenia OMIM:615934
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia, Difficulty walking ORPHA:1667
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive T cells,... ORPHA:90362
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Hyper-Igd Syndrome
Leukocytosis, Optic disc pallor, Rod-cone dystrophy, Splenomegaly, Neutrophilia, Hepatosplenomegaly OMIM:260920
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Anemia, Lymphopenia, Splenomegaly OMIM:617591
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Dysmetria, Anemia, Ataxia, Dysdiadochokinesis, Lymphopenia, Broad-based gait OMIM:616541
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma, Abno... ORPHA:228119
Legionnaires Disease
Ataxia, Lymphopenia, Splenomegaly ORPHA:549
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia, Ab... ORPHA:1830
Popov-Chang syndrome
Lymphopenia OMIM:618428
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response ORPHA:320406
Cowden Syndrome 1
Angioid streaks of the fundus, Lymphopenia, Intention tremor OMIM:158350
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia ORPHA:93552
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... ORPHA:3243
Whim Syndrome
Limb ataxia, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Optic atrophy, Leukopenia, Anemia, Splenomegaly, Ataxia, Hepatosple... OMIM:615688
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Sandhoff Disease
Ataxia, Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Hemolytic anemia, Lymphopenia, Splenomegaly ORPHA:1572
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... OMIM:608643
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Resting tremor, Lymphopenia, Thrombocytopenia ORPHA:319213
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly OMIM:249100
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Anemia, Impaired tandem gait, Neutrophilia, Ataxia, Microcytic anemia ORPHA:99843
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Optic atrophy, Gait disturbance, Dystonia, Cherry red spot of the macula, Dysmetria, Exaggerated ... ORPHA:845
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Ataxia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Japanese Encephalitis
Dystonia, Opisthotonus, Tremor, Neutrophilia, Pill-rolling tremor ORPHA:79139
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... OMIM:619381
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased CD4:CD8 ratio, Thrombocytope... OMIM:619573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Exaggerated startle response, Retinal dysplasia OMIM:253800
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Optic neuritis, Decreased proportion of CD4-p... ORPHA:289390
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Optic atrophy, Exaggerated startle response ORPHA:521426
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cushing Disease
Optic nerve compression, Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia, Retinal hem... ORPHA:99827
Hennekam Syndrome
Lymphopenia, Splenomegaly ORPHA:2136
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Sarcoidosis
Leukopenia, Increased T cell count, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Optic disc pallor, Anemia, Exaggerated startle response, Inability to walk, Broad-based... ORPHA:438213
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:99889
Charge Syndrome
Lymphopenia, Retinal coloboma OMIM:214800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Bahd1

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 Bahd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice. PloS one (May 2020) Bahd1tm1B(KOMP)Wts1 PMC7224496

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MGI Allele Allele Type Produced
Bahd1tm3e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Bahd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bahd1tm44058(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bahd1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Bahd1tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Bahd1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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