Gene Summary

RAN binding protein 17

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 skin morphology Ranbp17em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle 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.

Eye Morphology

Images Ophthalmoscopy

76 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


11 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

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
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornuate uterus, Microphtha... OMIM:615524
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spl... ORPHA:2470
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Cleft palate OMIM:164180
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Meckel Syndrome, Type 8
Anophthalmia, Cleft palate, Ambiguous genitalia, Microphthalmia, Enlarged kidney OMIM:613885
Anencephaly 2
Anophthalmia, Median cleft palate OMIM:619452
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesopha... ORPHA:77298
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension OMIM:617068
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia, Vaginal atresia OMIM:248450
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian tube ... ORPHA:2189
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Eso... ORPHA:2538
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Trisomy 13
Anophthalmia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia/Hypoplasia of the iris, ... ORPHA:3378
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia, High palate ORPHA:139471
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, High palate ORPHA:66625
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Anophthalmia Plus Syndrome
Anophthalmia, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Trisomy 1Q
Small scrotum, Anophthalmia, Cryptorchidism, Cleft palate, Ambiguous genitalia, Anal atresia ORPHA:261344
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Cockayne Syndrome Type 2
Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft palate, High palate, Microphthalmia OMIM:206920
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h... ORPHA:2250
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Mic... ORPHA:899
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Abnormal fallopian t... ORPHA:3412
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Anophthalmia, Aplasia/Hypoplasia of ... ORPHA:564
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... OMIM:613101
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... OMIM:206900
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... OMIM:601186
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... ORPHA:397596
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... ORPHA:2930
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Cryptorchidism, Male hypogonadism, Anemia ORPHA:90321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Hypoplasia of penis, Anophthalmia, Median cleft lip and palate, Cryptorchidism, Abnormality of th... ORPHA:2162
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... OMIM:618935
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia, High, narrow palate ORPHA:1101
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Anal stenosis, Cryptorchidism, Bif... ORPHA:2052
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, High palate, Hypoplastic male ... OMIM:605627
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... ORPHA:587
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Fraser Syndrome 1
Abnormal small intestine morphology, Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microph... OMIM:219000
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, ... ORPHA:1655
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... ORPHA:379
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate ORPHA:314575
Joubert Syndrome 21
Splenomegaly, Anophthalmia, Dysphagia OMIM:615636
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... OMIM:617100
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Neutropenia... OMIM:616395
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea OMIM:235555
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Cryptorchidism ORPHA:264200
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryp... ORPHA:138
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... OMIM:613673
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Focal Dermal Hypoplasia
Anophthalmia, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Cleft ... OMIM:305600
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric st... OMIM:113620
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Congenital Tracheal Stenosis
Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel ... ORPHA:141127
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia, High palate, Microphthalmia ORPHA:141099
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Microphth... OMIM:300166
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microglossia, Cleft palate, Hig... OMIM:607932
Microphthalmia With Limb Anomalies
Cryptorchidism, Cleft palate, High palate, Microphthalmia, True anophthalmia ORPHA:1106
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... ORPHA:567983
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Aganglionic megacolon, Cryptorchidism, High, narrow palate, Rectal pro... OMIM:309800
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Esophageal Atresia
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... ORPHA:1199
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas,... ORPHA:93111
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Pyloric... OMIM:181450
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia, Cleft palate OMIM:164210
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Williams Syndrome
Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Peptic ulcer, Cardiomega... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684


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.

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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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