Gene Summary

Name:
rhomboid domain containing 1
Synonyms:
4930418P06Rik

IMPC Data Collections

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

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 bone mineral content Rhbdd1tm1.1Mfm HOM Early adult 2.58×10-06
decreased granulocyte number Rhbdd1tm1.1Mfm HOM Early adult 2.46×10-06
increased T cell number Rhbdd1tm1.1Mfm HOM Early adult 5.26×10-06
decreased B cell number Rhbdd1tm1.1Mfm HOM Early adult 2.66×10-10
decreased mean corpuscular hemoglobin concentration Rhbdd1tm1.1Mfm HOM Early adult 6.23×10-07
decreased lean body mass Rhbdd1tm1.1Mfm HOM Early adult 8.82×10-10

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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.

Phenotype associated images not available

Human diseases caused by Rhbdd1 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 Rhbdd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly ORPHA:46532
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... OMIM:615285
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Mu-Heavy Chain Disease
Abnormal B cell count, Weight loss, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:613501
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Immunodeficiency 46
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Omenn Syndrome
B lymphocytopenia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B ly... OMIM:603554
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... OMIM:615513
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... OMIM:618108
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... ORPHA:169154
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Osteopenia, Thromboc... OMIM:617475
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Abnorma... ORPHA:98850
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Failure to thrive, Splenomegaly, Increased proportion autoreactive unresp... OMIM:618534
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Immunodeficiency 55
Neutropenia OMIM:617827
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Osteoporosis, Persistence of hemoglobin F, Splenomegaly, Red... ORPHA:231222
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Failure to thrive, Reduced red cell adenosine deaminase level, Splenomegaly, A... OMIM:102700
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... ORPHA:486
Whim Syndrome 1
Neutropenia OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... ORPHA:86843
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Barth Syndrome
Failure to thrive, Granulocytopenia, Neutropenia OMIM:302060
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia ORPHA:79312
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Lichtenstein Syndrome
Osteoporosis, Neutropenia OMIM:246550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Failur... ORPHA:572
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Reduced natural killer cell count, Decreased proportion of CD4-posi... OMIM:619510
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... OMIM:260400
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Felty Syndrome
Neutropenia, Weight loss, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Sp... ORPHA:47612
Diamond-Blackfan Anemia 6
Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, T... OMIM:614520
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4+CD... OMIM:606367
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, Anemia, Erythr... OMIM:612541
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... OMIM:304790
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Failure to thrive, Reticulocytopenia, Pancytopenia OMIM:275350
Retinal Venous Beading
Neutropenia OMIM:180080
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Osteopenia, Lymphopenia, Thrombocytopenia OMIM:242900
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Dominant Beta-Thalassemia
Failure to thrive in infancy, Hypochromic microcytic anemia, Osteoporosis, Persistence of hemoglo... ORPHA:231226
Beta-Thalassemia Major
Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, Osteoporosis, S... ORPHA:231214
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... ORPHA:2169
Propionic Acidemia
Neutropenia, Failure to thrive, Osteoporosis, Anemia, Pancytopenia, Thrombocytopenia OMIM:606054
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Fa... OMIM:614700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Throm... ORPHA:47
Methylmalonic Aciduria, Cblb Type
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia OMIM:612562
Methylmalonic Aciduria, Cbla Type
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251100
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... ORPHA:2442
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia OMIM:277380
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Cohen Syndrome
Small for gestational age, Neutropenia, Childhood-onset truncal obesity, Leukopenia OMIM:216550
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Failure to thr... ORPHA:1830
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Aplastic anemia ORPHA:99867
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Neutropenia OMIM:608809
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia, Small for gestational age ORPHA:391673
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocy... ORPHA:293978
Autosomal Agammaglobulinemia
Failure to thrive, Neutropenia ORPHA:33110
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:600901
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227650
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Failure to thrive, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:308230
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, C... ORPHA:330015
Wolcott-Rallison Syndrome
Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia ORPHA:1667
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Generalized osteoporosis... ORPHA:391487
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocy... OMIM:227645
Shwachman-Diamond Syndrome 2
Failure to thrive, Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia, Osteopenia OMIM:618005
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Megaloblastic anemia, Neutropenia ORPHA:79284
Fanconi Anemia, Complementation Group I
Decreased body weight, Neutropenia, Bone marrow hypocellularity OMIM:609053
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia OMIM:617303
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Neutropenia OMIM:209920
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Osteopenia, Reduced natural killer cell count, Decreased proportion of CD4-pos... ORPHA:221139
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Small for gestational age, Anemia, Splenomegaly, Thrombocytopenia, Dec... ORPHA:90051
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity ORPHA:445038
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, Sclerosis of skull base, T lymphocytopenia OMIM:607944
Rothmund-Thomson Syndrome
Neutropenia, Small for gestational age, Leukemia, Anemia, Reduced bone mineral density, Osteopeni... ORPHA:2909
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Neutropenia, Small for gestational age OMIM:615471
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Vacuolated lymphocytes, A... ORPHA:167
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neutropil an... ORPHA:37042
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocy... OMIM:227646
Alg12-Cdg
Abnormal bone ossification, Thrombocytopenia, B lymphocytopenia, Failure to thrive ORPHA:79324
Rothmund-Thomson Syndrome Type 1
Neutropenia, Small for gestational age, Leukemia, Anemia, Osteopenia, Abnormal trabecular bone mo... ORPHA:221008
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Decreased body weight, Neutropenia OMIM:601347
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Rothmund-Thomson Syndrome Type 2
Neutropenia, Small for gestational age, Leukemia, Anemia, Osteopenia, Abnormal trabecular bone mo... ORPHA:221016
Trichothiodystrophy
Neutropenia, Craniosynostosis, Anemia, Osteopenia, Increased bone mineral density, Increased mean... ORPHA:33364
Glycogen Storage Disease Ib
Osteoporosis, Neutropenia OMIM:232220
Whim Syndrome
Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Failure to thrive, Cong... OMIM:105650
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Weight loss, Neutropenia ORPHA:537
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Weight loss, Anemia, Splenomegaly, Redu... OMIM:619381
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, B lymphocytopenia, Severe B lymphocytopenia, Failure to thrive ORPHA:83617
Cartilage-Hair Hypoplasia
Neutropenia, Failure to thrive, Anemia, Abnormal bone ossification, Abnormally ossified vertebrae ORPHA:175
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Delayed ossification of carpal bones, Neutropenia, Osteopenia OMIM:271510
Leigh Syndrome
Anemia, Neutropenia, Failure to thrive ORPHA:506
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia ORPHA:50918
Cohen Syndrome
Obesity, Failure to thrive in infancy, Neutropenia ORPHA:193
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Pearson Syndrome
Neutropenia, Small for gestational age, Anemia, Bone marrow hypocellularity, Splenomegaly, Reticu... ORPHA:699
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia ORPHA:79430
Sarcoidosis
Bone cyst, Leukopenia, Increased T cell count, Weight loss, Anemia, Thrombocytopenia, Eosinophili... ORPHA:797
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia, Osteolysis ORPHA:73263
Sponastrime Dysplasia
Ivory epiphyses of the phalanges of the hand, Neutropenia, Delayed epiphyseal ossification, Small... ORPHA:93357
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455

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 Rhbdd1

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 Rhbdd1.

No publications found that use IMPC mice or data for Rhbdd1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rhbdd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rhbdd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rhbdd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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