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Gene: Rhbdd1 MGI:1924117

Gene Summary

Name:

rhomboid domain containing 1

Synonyms:

4930418P06Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased bone mineral content	Rhbdd1^tm1.1Mfm	HOM	Early adult	2.58×10^-06
decreased granulocyte number	Rhbdd1^tm1.1Mfm	HOM	Early adult	2.46×10^-06
increased T cell number	Rhbdd1^tm1.1Mfm	HOM	Early adult	5.26×10^-06
decreased B cell number	Rhbdd1^tm1.1Mfm	HOM	Early adult	2.66×10^-10
decreased mean corpuscular hemoglobin concentration	Rhbdd1^tm1.1Mfm	HOM	Early adult	6.23×10^-07
decreased lean body mass	Rhbdd1^tm1.1Mfm	HOM	Early adult	8.82×10^-10

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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.

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.

Human diseases associated with Rhbdd1 (0 diseases)
Human diseases predicted to be associated with Rhbdd1 (266 diseases)

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	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.

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MGI Allele	Allele Type	Produced
Rhbdd1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rhbdd1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rhbdd1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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