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 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
abnormal skin morphology 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

Gross Pathology and Tissue Collection


11 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral 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
Microphthalmia, Anophthalmia, Bicornuate uterus, Intestinal malrotation, Cleft palate, Cryptorchi... OMIM:615524
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Fryns Microphthalmia Syndrome
Bilateral cleft palate, Microphthalmia, Anophthalmia, Unicornuate uterus OMIM:600776
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... ORPHA:2470
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia, Cryptorchidism OMIM:164180
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Cleft palate, Ambiguous genitalia OMIM:613885
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate... ORPHA:157798
Anencephaly 2
Median cleft palate, Anophthalmia OMIM:619452
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Esophageal atresia, Hypoplasia of penis, Anophthalmia, Tracheoesopha... ORPHA:77298
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate, Cryptorchidism, Micropenis, E... OMIM:610125
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, 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, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Bifid uvula, Cleft palate, Subm... ORPHA:2189
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia ORPHA:2717
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly OMIM:608971
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Hypogonadism, Abnormal stomach morphology, Cryptorchidism ORPHA:281090
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, ... ORPHA:2538
Trisomy 13
High, narrow palate, Microphthalmia, Anophthalmia, Cleft palate, Displacement of the urethral mea... 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
Splenomegaly, Recurrent pancreatitis OMIM:118830
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anophthalmia, Vaginal atresia, Anteriorly placed anus OMIM:248450
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, High palate, Anophthalmia ORPHA:139471
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari... ORPHA:64743
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Hypoplasia of penis ORPHA:66625
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Anophthalmia Plus Syndrome
Bilateral cleft palate, Cleft palate, Anophthalmia ORPHA:1104
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Trisomy 1Q
Anophthalmia, Anal atresia, Cleft palate, Small scrotum, Ambiguous genitalia, Cryptorchidism ORPHA:261344
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs... OMIM:261000
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Cockayne Syndrome Type 2
Anophthalmia, Hepatomegaly, Male hypogonadism, Cryptorchidism ORPHA:90322
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Clef... ORPHA:2250
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, High palate, Unilateral cryptorchidism, Cleft palate OMIM:206920
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft har... ORPHA:899
Vacterl With Hydrocephalus
Microphthalmia, Esophageal atresia, Abnormal fallopian tube morphology, Anophthalmia, Anal atresi... ORPHA:3412
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Meckel Syndrome
Microphthalmia, Accessory spleen, Anophthalmia, Aplasia/Hypoplasia of the iris, Furrowed tongue, ... ORPHA:564
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Biliary tract abnormality, Spleno... ORPHA:79301
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ... OMIM:147250
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Microphthalmia, Syndromic 3
Microphthalmia, Esophageal atresia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior p... OMIM:206900
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Hypoplastic spl... OMIM:601186
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co... OMIM:613101
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin... OMIM:300635
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly OMIM:615085
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... ORPHA:397596
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint... ORPHA:131
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Cockayne Syndrome Type 1
Hepatomegaly, Anemia, Anophthalmia, Cryptorchidism, Male hypogonadism ORPHA:90321
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Cryptorchidism, Aniridia, Anophthalmia ORPHA:1101
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Microphthalmia, Gastroesophageal reflux, Anterior hypopituitarism, Hypoplasia of penis, Anophthal... ORPHA:2162
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa... OMIM:618935
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl... OMIM:618892
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, S... OMIM:607765
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ... ORPHA:381
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Abnormally large gl... ORPHA:1655
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph... OMIM:616100
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... OMIM:300048
Cerebrooculonasal Syndrome
Narrow palate, Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, High pa... OMIM:605627
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha... OMIM:278000
Fraser Syndrome
Microphthalmia, Anal stenosis, Hypospadias, Anorectal anomaly, Abnormal vagina morphology, Hypopl... ORPHA:2052
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Cle... OMIM:219000
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesi... OMIM:616395
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Testicular atrophy, Sple... OMIM:235200
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du... OMIM:613812
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Joubert Syndrome 21
Splenomegaly, Dysphagia, Anophthalmia OMIM:615636
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia, Small scrotum, Cryptorchidism ORPHA:264200
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me... OMIM:618394
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Adams-Oliver Syndrome 6
Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension OMIM:616589
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Charge Syndrome
Microphthalmia, Tracheoesophageal fistula, Dysphagia, Lymphopenia, Decreased response to growth h... OMIM:214800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Charge Syndrome
Microphthalmia, Gastroesophageal reflux, Abnormal soft palate morphology, Labial hypoplasia, Ante... ORPHA:138
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi... OMIM:610829
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp... ORPHA:779
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Anemia of inadequate produ... ORPHA:231222
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Fibular Hemimelia
Thrombocytopenia, Anophthalmia ORPHA:93323
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Focal Dermal Hypoplasia
Microphthalmia, Supernumerary nipple, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp... OMIM:305600
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Gastroesophageal reflux, Anophthalmia, Duplication of internal organ... OMIM:113620
Metachromatic Leukodystrophy
Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder... ORPHA:512
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Bifid uvula, Septate vagina, Submucous cleft hard pala... OMIM:300166
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Anal ... ORPHA:141127
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte... OMIM:263200
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Proboscis Lateralis
Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, High palate ORPHA:141099
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, High palate, Female hypogonadism, Bifid u... OMIM:607932
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, High palate, Cleft palate, Cryptorchidism ORPHA:1106
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Microphthalmia, Syndromic 1
High, narrow palate, Rectal prolapse, Aganglionic megacolon, Hypospadias, Microphthalmia, Anophth... OMIM:309800
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... ORPHA:1199
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome... ORPHA:731
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... ORPHA:93111
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Ulnar-Mammary Syndrome
Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate... OMIM:181450
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Craniofacial Microsomia 1
Microphthalmia, Cleft palate, Anophthalmia OMIM:164210
Williams Syndrome
Peptic ulcer, Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Hypoplasia of penis, Apla... 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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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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