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Gene: Bahd1 MGI:2139371

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Gene Summary

Name:
bromo adjacent homology domain containing 1
Synonyms:
LOC228536

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased NK T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 1.38×10-05
increased memory-marker CD4-negative NK T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 6.66×10-06
decreased effector memory CD8-positive, alpha-beta T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 1.91×10-05
increased CD4-negative NK T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 1.63×10-06
decreased lymphocyte cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 7.64×10-07
decreased leukocyte cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 3.11×10-05
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
decreased total retina thickness Bahd1tm2b(KOMP)Wtsi HET Early adult 1.18×10-05
decreased locomotor activity Bahd1tm2b(KOMP)Wtsi HET Early adult 8.40×10-05
increased neutrophil cell number Bahd1tm2b(KOMP)Wtsi HET   Early adult 2.28×10-05
increased T cell number Bahd1tm2b(KOMP)Wtsi HET Early adult 2.34×10-07

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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 Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

10 Images

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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 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent 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
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis OMIM:610181
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
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
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... OMIM:159550
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 44
Lymphopenia OMIM:616636
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Chorioretinal coloboma ORPHA:1116
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Neutropenia OMIM:616949
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... OMIM:180080
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Ocular albinism, Hypopigmentation of the fundus OMIM:614171
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Gait ataxia, Abnormal proportion of CD4-positive T ... ORPHA:217260
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia, Lethargy ORPHA:289916
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancyto... ORPHA:158048
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia, Thrombocytopenia, ... ORPHA:27
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... OMIM:619374
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia, Le... ORPHA:79312
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Sneddon Syndrome
Tremor, Lymphopenia OMIM:182410
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Abnormality o... ORPHA:3226
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia OMIM:598500
Ataxia-Telangiectasia
Gait disturbance, Tremor, Ataxia, Lymphopenia ORPHA:100
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Lethargy, Pancytopenia OMIM:243500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell mo... ORPHA:760
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absen... OMIM:619705
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia ORPHA:86843
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
Pgm3-Cdg
Cutaneous abscess, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ... ORPHA:443811
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmu... OMIM:613179
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Chediak-Higashi Syndrome
Ataxia, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Mac... OMIM:214500
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Ocular albinism, Splenomegaly, Hepatosplenomegaly, Thrombocytop... OMIM:608233
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis OMIM:617099
Ataxia-Telangiectasia
Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Intention tremor, Hypoplas... OMIM:208900
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Autoinflammatory Disease, Systemic, X-Linked
Optic neuritis, Hepatosplenomegaly, B lymphocytopenia, Chorioretinitis, Neutropenia OMIM:301081
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia, Lethargy ORPHA:319218
Transcobalamin Ii Deficiency
Ataxia, Macrocytic anemia, Pancytopenia, Lethargy, Neutropenia, Reticulocytopenia OMIM:275350
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... OMIM:618935
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia OMIM:617575
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Lymphopenia, Dysmetria, Intention tremor, Head titubation, Optic atrophy, Dystonia OMIM:619708
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Brain abscess, Neutrophilia ORPHA:54251
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Ataxia, Abnormal T cell subset distribution, Intention tremor, Optic nerve hypoplasia, B lymphocy... ORPHA:221139
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
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
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Lymphopenia, Opisthotonus, T lymphocytopenia, Decreased proportion of CD8-posi... ORPHA:508533
Dyskeratosis Congenita, Autosomal Dominant 1
Ataxia, Lymphopenia, Aplastic anemia, Anemia, Thrombocytopenia OMIM:127550
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Waddling gait, Neutropenia, Anemia, Abnormal T cell ... OMIM:242900
Immunodeficiency 23
Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Wolcott-Rallison Syndrome
Difficulty walking, Neutropenia, Lymphocytosis, Iron deficiency anemia ORPHA:1667
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Ataxia, Neutropenia, Abnormality of retinal pigmentation, Vacuolat... ORPHA:167
Primary Intestinal Lymphangiectasia
Anemia, Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ eff... ORPHA:90362
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Lymphopenia, Leukopenia OMIM:615934
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm... OMIM:102700
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Hepatosplenomegaly, Optic disc pallor OMIM:260920
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Inability to walk, Exaggerated startle response OMIM:609541
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly OMIM:617591
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Lymphopenia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Anemia OMIM:616541
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response ORPHA:320406
Fusariosis
Lymphopenia, Abnormality of the spleen, Brain abscess, Abnormal retinal morphology, Neutropenia, ... ORPHA:228119
Legionnaires Disease
Ataxia, Lymphopenia, Splenomegaly ORPHA:549
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Popov-Chang syndrome
Lymphopenia OMIM:618428
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Cowden Syndrome 1
Angioid streaks of the fundus, Intention tremor, Lymphopenia OMIM:158350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Avian Influenza
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:454836
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Optic atrophy, T... OMIM:615688
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:93552
Whim Syndrome
Limb ataxia, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response, Cherry red spot of the macula, Ataxia OMIM:268800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Neutrophilia, Splenomegaly OMIM:612852
Common Variable Immunodeficiency
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia OMIM:607944
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Lujo Hemorrhagic Fever
Lymphopenia, Resting tremor, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:319213
Noonan Syndrome 14
Lymphopenia OMIM:619745
Leukocyte Adhesion Deficiency Type Ii
Ataxia, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia, Impaired tandem gait ORPHA:99843
Familial Mediterranean Fever
Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Dysmetria, Cherry red spot of the macula, Exaggerated star... ORPHA:845
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Kikuchi-Fujimoto Disease
Ataxia, Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Japanese Encephalitis
Neutrophilia, Opisthotonus, Pill-rolling tremor, Tremor, Choreoathetosis, Dystonia ORPHA:79139
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... OMIM:619381
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Dystonia, Ataxia, Exaggerated startle response 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Retinal dysplasia, Exaggerated startle response OMIM:253800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia OMIM:620005
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno... ORPHA:3260
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... OMIM:619573
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis ORPHA:84064
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
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... ORPHA:99826
Primary Sjögren Syndrome
Optic neuritis, Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive ... ORPHA:289390
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Cushing Disease
Optic nerve compression, Lymphopenia, Decreased eosinophil count, Leukocytosis ORPHA:96253
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Retinal hemorrhage, Pancytopenia, Thrombocy... ORPHA:99827
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count ORPHA:797
Yellow Fever
Thrombocytopenia, Neutrophilia, Leukocytosis ORPHA:99829
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Optic disc pallor, Anemia, Dys... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
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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