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Gene: Ranbp17 MGI:1929706

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Gene Summary

Name:
RAN binding protein 17
Synonyms:
4932704E15Rik

Order Alleles

IMPC Data Collections

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 seminal vesicle morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
anophthalmia Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Ranbp17em1(IMPC)Tcp HOM Early adult 0.00

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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.

Gross Pathology and Tissue Collection

Images

11 Images

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Eye Morphology

Images Ophthalmoscopy

76 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Ranbp17 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 Ranbp17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Syndromic 12
Intestinal malrotation, Cryptorchidism, Anophthalmia, Microphthalmia, Bicornuate uterus, Cleft pa... OMIM:615524
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Fryns Microphthalmia Syndrome
Microphthalmia, Unicornuate uterus, Anophthalmia, Bilateral cleft palate OMIM:600776
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Anophthalmia, Cryptorchidism, Abn... ORPHA:2470
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Meckel Syndrome, Type 8
Anophthalmia, Ambiguous genitalia, Microphthalmia, Enlarged kidney, Cleft palate OMIM:613885
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc... ORPHA:157798
Anencephaly 2
Median cleft palate, Anophthalmia OMIM:619452
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Microphthalmia, Hypo... ORPHA:77298
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Cleft pala... OMIM:610125
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Hydrolethalus
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Cryptorchidism, Abnormal fallopian tube m... ORPHA:2189
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia ORPHA:2717
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... ORPHA:2538
Trisomy 13
High, narrow palate, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the ... ORPHA:3378
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Anophthalmia, Microphthalmia, Vaginal atresia OMIM:248450
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:139471
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Cerebrooculonasal Syndrome
Hypoplasia of penis, High palate, Anophthalmia ORPHA:66625
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anophthalmia Plus Syndrome
Anophthalmia, Cleft palate, Bilateral cleft palate ORPHA:1104
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Trisomy 1Q
Small scrotum, Cryptorchidism, Anophthalmia, Ambiguous genitalia, Anal atresia, Cleft palate ORPHA:261344
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Cockayne Syndrome Type 2
Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Hypogonadism, External genital hypoplasia, Anophthalmia, Submucous cleft hard palate... ORPHA:2250
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia, Unilateral cryptorchidism, High palate, Cleft palate OMIM:206920
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Walker-Warburg Syndrome
Bifid uvula, Anophthalmia, Submucous cleft hard palate, Cryptorchidism, Microphthalmia, Hypoplasi... ORPHA:899
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Abnormal fallopian t... ORPHA:3412
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Anophthalmia, Aplasia/Hypopl... ORPHA:564
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Esophageal atre... OMIM:206900
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the ... OMIM:601186
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:615085
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l... ORPHA:397596
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Cholecys... ORPHA:131
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Cockayne Syndrome Type 1
Male hypogonadism, Anophthalmia, Cryptorchidism, Anemia, Hepatomegaly ORPHA:90321
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Aniridia, Anophthalmia, Cryptorchidism ORPHA:1101
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Holoprosencephaly
Gastroesophageal reflux, Panhypopituitarism, Abnormality of the spleen, Median cleft palate, Anop... ORPHA:2162
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno... OMIM:618935
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Harderoporphyria
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal... OMIM:618892
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Bilateral cryptorchidism, Pyloric stenosis ORPHA:314575
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st... OMIM:607765
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Abnormal rectum morphology, Anophthalmia, Male p... ORPHA:2556
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Abnormality of the uterus, Pancreatic lymphan... ORPHA:1655
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... OMIM:616100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Narrow palate, Hypoplastic male external genitalia, Cleft palate, Opti... OMIM:605627
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Fraser Syndrome
Small scrotum, Anal stenosis, Abnormal vagina morphology, Vaginal atresia, Microphthalmia, Anopht... ORPHA:2052
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... OMIM:612714
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic... ORPHA:848
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Abnormal small intestine morphology, Anophthalmia... OMIM:219000
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Mic... OMIM:616395
Hemochromatosis, Type 1
Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Ci... OMIM:235200
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Joubert Syndrome 21
Splenomegaly, Dysphagia, Anophthalmia OMIM:615636
14Q22Q23 Microdeletion Syndrome
Small scrotum, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:264200
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec... OMIM:618394
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoi... OMIM:603909
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Anophthalmia, Cryptorchidism, Microphthalmia, Hypoparathy... OMIM:214800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Charge Syndrome
Gastroesophageal reflux, Bifid scrotum, Abnormal morphology of female internal genitalia, Anophth... ORPHA:138
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa... ORPHA:779
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th... ORPHA:100026
Chronic Granulomatous Disease
Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,... ORPHA:379
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect... ORPHA:436159
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... ORPHA:231222
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Focal Dermal Hypoplasia
Anteriorly placed anus, Supernumerary nipple, Intestinal malrotation, Aniridia, Anophthalmia, Cry... OMIM:305600
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Branchiooculofacial Syndrome
Gastroesophageal reflux, Supernumerary nipple, Ectopic thymus tissue, Anophthalmia, Cryptorchidis... OMIM:113620
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... ORPHA:512
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Microphthalmia, Syndromic 2
Bifid uvula, Septate vagina, Cryptorchidism, Anophthalmia, Submucous cleft hard palate, Microphth... OMIM:300166
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Anophthalmia, Microphthalmia ORPHA:2526
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Congenital Tracheal Stenosis
Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gast... ORPHA:141127
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... OMIM:263200
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Proboscis Lateralis
External genital hypoplasia, Anophthalmia, Microphthalmia, High palate, Optic nerve hypoplasia ORPHA:141099
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Microphthalmia, Syndromic 6
Bifid uvula, Small scrotum, Microglossia, Anophthalmia, Cryptorchidism, Microphthalmia, Female hy... OMIM:607932
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Microphthalmia With Limb Anomalies
True anophthalmia, Cryptorchidism, Microphthalmia, High palate, Cleft palate ORPHA:1106
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno... ORPHA:567983
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Microphthalmia, Syndromic 1
High, narrow palate, Anophthalmia, Cryptorchidism, Aganglionic megacolon, Anal atresia, Microphth... OMIM:309800
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, A... ORPHA:1199
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancre... ORPHA:93111
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Imperforate hymen, Axillary apocrine g... OMIM:181450
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Craniofacial Microsomia 1
Anophthalmia, Cleft palate, Microphthalmia OMIM:164210
Williams Syndrome
Precocious puberty, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, A... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684

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 Ranbp17

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 Ranbp17.

No publications found that use IMPC mice or data for Ranbp17.

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
Ranbp17tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ranbp17em1(IMPC)Tcp Exon Deletion Mice
Ranbp17tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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