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Gene: Ric1 MGI:1924893

Gene Summary

Name:

RAB6A GEF complex partner 1

Synonyms:

C130057E09Rik, C030046E11Rik

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 mean corpuscular volume	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	6.72×10^-07
decreased hematocrit	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	7.59×10^-07
increased grip strength	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.41×10^-05
abnormal behavior	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	3.86×10^-26
increased circulating alkaline phosphatase level	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	8.12×10^-21
increased heart weight	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	5.81×10^-05
decreased leukocyte cell number	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.48×10^-05
decreased erythrocyte cell number	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.17×10^-11
increased circulating alanine transaminase level	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	4.01×10^-11
decreased B cell number	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.11×10^-14
decreased hemoglobin content	Ric1^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.14×10^-22

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 Ric1 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 Ric1 (1 diseases)
Human diseases predicted to be associated with Ric1 (178 diseases)

The table below shows human diseases associated to Ric1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Catifa Syndrome			OMIM:618761

The table below shows human diseases predicted to be associated to Ric1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane...	OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy...	OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:615234
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia	OMIM:261000
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se...	ORPHA:98870
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy...	ORPHA:90044
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:616860
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o...	OMIM:612561
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia, Hepatomegaly	OMIM:613977
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ...	OMIM:277410
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy...	ORPHA:2169
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti...	OMIM:609628
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym...	OMIM:603554
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt...	OMIM:611590
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru...	OMIM:613673
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Hypoamylasemia, Hepato...	ORPHA:811
Acute Erythroid Leukemia	Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic...	OMIM:612562
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Beta-Thalassemia	Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Abnormality of iron...	ORPHA:848
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	OMIM:619924
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ...	ORPHA:124
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath...	OMIM:619313
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt...	OMIM:616959
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo...	OMIM:212050
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Cardiomyopathy, Dilated, 1I	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, S...	ORPHA:231222
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Ventricular septal defect, Thrombocytopenia, Dilated cardiomyo...	ORPHA:261250
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Mu-Heavy Chain Disease	Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly	ORPHA:100024
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p...	OMIM:301082
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy...	ORPHA:86841
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia	ORPHA:163596
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia	OMIM:616873
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, Anisocytosis, Hepatosplenomegaly, ...	OMIM:618278
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:613011
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Diamond-Blackfan Anemia 5	Leukopenia, Erythroid hypoplasia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia	OMIM:612528
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia	OMIM:616871
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E...	ORPHA:231214
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Diamond-Blackfan Anemia 4	Atrial septal defect, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:612527
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re...	OMIM:615550
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia, ...	OMIM:618886
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce...	OMIM:619705
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, B lymphocytopenia, Increased CD4:CD8 ratio...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iii	Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Increased prop...	OMIM:615559
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Pericardial Effusion, Chronic	Polycythemia, Pericardial effusion, Constrictive pericarditis	OMIM:260900
Agammaglobulinemia 10, Autosomal Dominant	Absent circulating B cells, Transient neutropenia	OMIM:619707
Eisenmenger Syndrome	Increased mean corpuscular volume, Bacterial endocarditis, Elevated circulating C-reactive protei...	ORPHA:97214
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B...	OMIM:301078
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:263400
Attrv122I Amyloidosis	Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro...	ORPHA:85451
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia	ORPHA:277
Castleman Disease	Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Restric...	ORPHA:160
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia	OMIM:222800
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Immunodeficiency 36	Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of...	OMIM:616005
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia	OMIM:231095
Immunodeficiency 64	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal...	OMIM:618534
Immunodeficiency 92	Hepatomegaly, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportio...	OMIM:619652
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased proportion of memory B cells	ORPHA:70593
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Abnormal B ce...	ORPHA:331206
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Neutropenia, Bone marro...	ORPHA:508542
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop...	OMIM:102700
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increased total i...	OMIM:613280
Gaisböck Syndrome	Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he...	ORPHA:90041
Sickle Cell Anemia	Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiomegaly, Increased...	OMIM:603903
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic ane...	OMIM:616084
Shwachman-Diamond Syndrome 1	Hepatomegaly, Persistence of hemoglobin F, Myocardial necrosis, Pancytopenia, Neutropenia, Anemia...	OMIM:260400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ...	OMIM:606367
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:600649
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect	OMIM:619769
X-Linked Lymphoproliferative Disease	Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl...	ORPHA:2442
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex...	OMIM:602450
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc...	OMIM:614700
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, B lymphocytopenia, Neutropenia	OMIM:301081
Danon Disease	Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil...	OMIM:300257
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology	ORPHA:293978
Lead Poisoning	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo...	ORPHA:330015
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	ORPHA:35078
Gaucher Disease, Type Iiic	Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati...	OMIM:231005
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:141750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr...	OMIM:301074
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Lymphopenia, Atrial septal defect, Severe B lymphocytopenia, Accessory spleen, Patent foramen ova...	OMIM:620005
Alg12-Cdg	Muscular ventricular septal defect, B lymphocytopenia, Hypocholesterolemia, Biventricular hypertr...	ORPHA:79324
Agammaglobulinemia, X-Linked	Cor pulmonale, B lymphocytopenia, T lymphocytopenia, Neutropenia, Anemia	OMIM:300755
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ventricular septal defect, HbH...	OMIM:301040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune...	ORPHA:391487
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia	OMIM:251260
Duodenal Neuroendocrine Tumor	Tricuspid stenosis, Pulmonic stenosis, Increased hematocrit, Iron deficiency anemia	ORPHA:100076
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Abnormal ...	ORPHA:221139
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells	OMIM:307200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Hepatomegaly, Perimembranous ventricular septal defect, B lymphocytopenia	ORPHA:83617
Catifa Syndrome		OMIM:618761

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 Ric1

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 Ric1.

No publications found that use IMPC mice or data for Ric1.

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MGI Allele	Allele Type	Produced
Ric1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ric1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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