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Gene: Rnf19b MGI:1922484

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Gene Summary

Name:
ring finger protein 19B
Synonyms:
Ibrdc3,  4930555L03Rik,  4930534K13Rik

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Rnf19bem1(IMPC)Ccpcz HET Early adult 0.00
no spontaneous movement Rnf19bem1(IMPC)Ccpcz HOM E18.5 0.00
preweaning lethality, complete penetrance Rnf19bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Rnf19bem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, incomplete penetrance Rnf19bem1(IMPC)Ccpcz HOM   Early adult 0.00
increased eosinophil cell number Rnf19bem1(IMPC)Ccpcz HET Early adult 5.10×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Hind Leg and Hip

40 Images

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X-ray

XRay Images Skull Lateral Orientation

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Rnf19b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rnf19b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 88
Eosinophilia OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Loeffler Endocarditis
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... ORPHA:75566
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Halothane Hepatitis
Eosinophilia OMIM:234350
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,... OMIM:300400
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Neutropenia, Splenomegaly OMIM:615387
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Lymphoproliferative Syndrome, X-Linked, 1
Lymphoma, Burkitt lymphoma, Reduced natural killer cell activity, Decreased circulating antibody ... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Reduced natural killer cell act... OMIM:619281
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:616651
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Wells Syndrome
Eosinophilia ORPHA:901
Cinca Syndrome
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly OMIM:607115
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level OMIM:613101
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Atrial septal defect, Eosinophilia, Pulmonic stenosis OMIM:618282
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hepatomegaly, Eosi... OMIM:603554
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia OMIM:147060
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... OMIM:619374
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Lymphoproliferative disorder, Absent isohemagglutinin level... OMIM:615559
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Abnormal B cell... ORPHA:331206
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Omenn Syndrome
Anemia, Leukocytosis, Hepatomegaly, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:39041
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... OMIM:602450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Eosinophilia ORPHA:2070
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:617388
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abnormal heart morphology, Hepatomegaly, Eosinophilia, Abscess ORPHA:400
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard... ORPHA:183
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Anemia, Hepatomegaly ORPHA:858
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Myocarditis, Eosinophilia ORPHA:139402
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph... ORPHA:85451
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Infantile Sialic Acid Storage Disease
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly OMIM:269920
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Netherton Syndrome
Hypereosinophilia OMIM:256500
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess OMIM:615816
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Decreased proportion of CD4-positive helper T cells, Abnormal proportion ... ORPHA:3261
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Neuraminidase Deficiency
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiom... OMIM:256550
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Alveolar Echinococcosis
Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs... ORPHA:284
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Scleroderma
Pericarditis, Interstitial cardiac fibrosis, Myocarditis, Hypereosinophilia ORPHA:801
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive... ORPHA:508533
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Myocardial eosinophilic infiltr... ORPHA:3260
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Pseudo-Torch Syndrome 3
Cardiomegaly, Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Sickle Cell Disease
Hemolytic anemia, Target cells, Splenic infarction, Increased red cell sickling tendency, Hepatom... OMIM:603903
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal defect, Hepatospl... OMIM:274000
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia ORPHA:199299
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... OMIM:301000
Coccidioidomycosis
Granuloma, Pericarditis, Eosinophilia, Abnormality of the spleen, Abscess ORPHA:228123
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Right atrial ... OMIM:306955
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity OMIM:608233
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:201475
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, P... OMIM:618278
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... ORPHA:363705
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Mogs-Cdg
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal... ORPHA:79330
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy ORPHA:465508
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Gaucher Disease, Perinatal Lethal
Anemia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly OMIM:608013
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Sarcoidosis
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hepatomegaly, Eosinophilia, Thrombo... ORPHA:797
Igg4-Related Kidney Disease
Pericarditis, Enlarged kidney, Eosinophilia ORPHA:449395
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... OMIM:602782
Fucosidosis
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly OMIM:230000
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Viss Syndrome
Hypereosinophilia, Patent foramen ovale, Double outlet right ventricle, Coronary sinus enlargemen... OMIM:619472
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:308552
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:608836
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... ORPHA:906
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy OMIM:614921
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy ORPHA:228308
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Abetalipoproteinemia
Anemia, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis ORPHA:14
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatosplenomegaly, Hepatomegaly, Histiocytosis, Splenomegaly ORPHA:171
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Cushing Disease
Leukocytosis, Decreased eosinophil count, Lymphopenia ORPHA:96253
Dermatomyositis
Pericarditis, Myocarditis, Abnormal eosinophil morphology ORPHA:221
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly ORPHA:365
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ... ORPHA:51
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:130650
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Anemia, Dilatation of the ventricular cavity, ... OMIM:619991
Beckwith-Wiedemann Syndrome
Enlarged kidney, Polycythemia, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiome... ORPHA:116
Infection-Related Hemolytic Uremic Syndrome
Abnormality of interferon secretion, Increased circulating interleukin 6 concentration, Abnormali... ORPHA:544482
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Microcytic anemia OMIM:256040
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Lymphopenia ORPHA:99889
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Williams Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... ORPHA:904
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608

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 Rnf19b

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 Rnf19b.

No publications found that use IMPC mice or data for Rnf19b.

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MGI Allele Allele Type Produced
Rnf19bem1(IMPC)Ccpcz Exon Deletion Mice
Rnf19btm271092(L1L2_6XOspnEnh_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnf19btm271092(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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