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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 T cell number	Rhbdd1^tm1.1Mfm	HOM	Early adult	5.26×10^-06
decreased lean body mass	Rhbdd1^tm1.1Mfm	HOM	Early adult	8.82×10^-10
decreased granulocyte number	Rhbdd1^tm1.1Mfm	HOM	Early adult	2.46×10^-06
decreased B cell number	Rhbdd1^tm1.1Mfm	HOM	Early adult	2.66×10^-10
increased bone mineral content	Rhbdd1^tm1.1Mfm	HOM	Early adult	2.58×10^-06

Download data as: TSV XLS

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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 (251 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
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l...	OMIM:618987
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent...	OMIM:601457
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell...	OMIM:301078
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia	ORPHA:277
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Absent circulating B cells	OMIM:620282
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thromboc...	OMIM:617475
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Whim Syndrome 1	Neutropenia	OMIM:193670
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Decreased proportion of memory B c...	OMIM:618048
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive	OMIM:615387
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal...	OMIM:602450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79312
Activated Pi3K-Delta Syndrome	Splenomegaly, Failure to thrive, B lymphocytopenia	ORPHA:397596
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia...	OMIM:613989
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Failure to thrive, Increased B cell count	ORPHA:98813
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Felty Syndrome	Splenomegaly, Osteolysis, Weight loss, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal...	ORPHA:47612
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Propionic Acidemia	Pancytopenia, Osteoporosis, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:606054
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia, Fa...	ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to...	OMIM:275350
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:251000
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:614857
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Weight loss, Anemia, Neutropenia, Failure to thrive, Throm...	ORPHA:47
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutrope...	OMIM:242900
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thrive	OMIM:302060
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Lymphopenia, Neutropenia	OMIM:616395
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Cohen Syndrome	Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia	OMIM:216550
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Neutropenia	OMIM:618253
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Thrombocytopenia, Decreased proportion of naive CD8...	ORPHA:1830
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Necrotizing Enterocolitis	Leukocytosis, Small for gestational age, Thrombocytopenia, Neutropenia	ORPHA:391673
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Autosomal Agammaglobulinemia	Failure to thrive, Neutropenia	ORPHA:33110
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia, Failure to th...	OMIM:277380
Wolcott-Rallison Syndrome	Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia	ORPHA:1667
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo...	OMIM:612541
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Neutropenia	OMIM:618005
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocy...	ORPHA:293978
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-p...	ORPHA:221139
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg...	OMIM:608233
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
Fanconi Anemia, Complementation Group I	Decreased body weight, Bone marrow hypocellularity, Neutropenia	OMIM:609053
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat...	OMIM:301074
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Bare Lymphocyte Syndrome, Type Ii	Failure to thrive, Neutropenia	OMIM:209920
Sepsis In Premature Infants	Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Decreased body weight...	ORPHA:90051
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227645
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:617303
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Neutropenia, Lymphopenia	OMIM:607944
Methylmalonic Acidemia With Homocystinuria Type Cblf	Failure to thrive, Neutropenia, Megaloblastic anemia	ORPHA:79284
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:617941
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Redu...	ORPHA:2909
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Alg12-Cdg	Failure to thrive, B lymphocytopenia, Thrombocytopenia, Abnormal bone ossification	ORPHA:79324
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Failure to thrive, Small for gestational age, Neutropenia	OMIM:615471
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Vici Syndrome	Failure to thrive, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positi...	OMIM:242840
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Neut...	ORPHA:221008
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Severe B lymphocytopenia, B lymphocytopenia, Coronal craniosynostosis	ORPHA:83617
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227646
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Weight loss, T lymphocytopenia...	OMIM:619381
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Neut...	ORPHA:221016
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Neutropenia	OMIM:232220
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Craniosynostosis, Increased mean corpuscular hemoglob...	ORPHA:33364
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Anemia, Neutropenia	OMIM:618460
Cohen Syndrome	Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells	OMIM:307200
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Neutropenia, Abnormal bone ossification, Failure to thrive, Anemia	ORPHA:175
Leigh Syndrome	Failure to thrive, Anemia, Neutropenia	ORPHA:506
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Delayed ossification of carpal bones, Neutropenia	OMIM:271510
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Kikuchi-Fujimoto Disease	Splenomegaly, Weight loss, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Splenomegaly, Anemia, Bone marrow hypoc...	ORPHA:699
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Bone cyst, Weight loss, Anemia, Leukopeni...	ORPHA:797
Zygomycosis	Brain abscess, Splenic abscess, Osteolysis, Neutropenia	ORPHA:73263
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neutropenia	OMIM:617248
Sponastrime Dysplasia	Delayed epiphyseal ossification, Small for gestational age, Ivory epiphyses of the phalanges of t...	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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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