Gene Summary

Name:
RAB6A GEF complex partner 1
Synonyms:
C130057E09Rik,  C030046E11Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Ric1tm1a(EUCOMM)Hmgu HOM Early adult 6.72×10-07
decreased hemoglobin content Ric1tm1a(EUCOMM)Hmgu HOM Early adult 1.14×10-22
abnormal behavior Ric1tm1a(EUCOMM)Hmgu HOM Early adult 3.86×10-26
decreased B cell number Ric1tm1a(EUCOMM)Hmgu HOM Early adult 2.11×10-14
decreased leukocyte cell number Ric1tm1a(EUCOMM)Hmgu HOM Early adult 2.48×10-05
decreased erythrocyte cell number Ric1tm1a(EUCOMM)Hmgu HOM Early adult 1.17×10-11
increased heart weight Ric1tm1a(EUCOMM)Hmgu HOM Early adult 7.60×10-09
increased circulating alanine transaminase level Ric1tm1a(EUCOMM)Hmgu HOM Early adult 1.58×10-08
increased circulating alkaline phosphatase level Ric1tm1a(EUCOMM)Hmgu HOM Early adult 6.93×10-26
decreased hematocrit Ric1tm1a(EUCOMM)Hmgu HOM Early adult 7.59×10-07

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Reticulocytopenia... ORPHA:300298
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volum... OMIM:277410
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Hypomethioninemia, Increased mean corpuscular volume, Hyperhomocystine... ORPHA:2169
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepatosplenome... OMIM:611590
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Shwachman-Diamond Syndrome
Abnormal heart morphology, Hypoamylasemia, Chronic neutropenia, Neutropenia, Impaired neutrophil ... ORPHA:811
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Hepatomegaly, Anemia, Splen... ORPHA:848
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Decreased serum iron, Anisocytosis, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia OMIM:618838
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Ventricular septal defect, Reticulocytopenia, Leukopenia, Macrocytic anemia OMIM:612528
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular v... ORPHA:261250
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... OMIM:615550
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cardiome... OMIM:618886
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Pericardial effusion OMIM:260900
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypoa... ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Hyperammonemia, Cardiomyopathy, Macrocytic an... ORPHA:27
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Congenital Toxoplasmosis
Thrombocytopenia, Cardiomegaly, Anemia, Hepatomegaly ORPHA:858
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Atrial septal defect, Bacterial endocardit... ORPHA:97214
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Castleman Disease
Restrictive cardiomyopathy, Thrombocytopenia, Elevated circulating C-reactive protein concentrati... ORPHA:160
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... ORPHA:508542
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Polycythemia, Hepatomegaly, Unconjugated hyperbilirubinemi... OMIM:613280
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocyto... OMIM:616084
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Thymoma
Hemolytic anemia, Pericarditis, Abnormal lymphocyte morphology, Pancytopenia, B lymphocytopenia, ... ORPHA:99867
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Increased proportion of CD25+ mast c... ORPHA:2442
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased... OMIM:235200
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Hyponatremia, Autoimmune thrombocytopenia ORPHA:293978
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Decreased HDL cholesterol co... ORPHA:330015
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:301040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Nijmegen Breakage Syndrome
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Pulmonic stenosis, Increased hematocrit, Tricuspid stenosis ORPHA:100076
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, B lymphoc... ORPHA:221139
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Perimembranous ventricular septal defect, B lymphocytopenia, Hepatomegaly 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
Ric1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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