Gene Summary

Name:
ring finger protein 5
Synonyms:
2410131O05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased freezing behavior Rnf5tm1.1(KOMP)Vlcg HET Early adult 3.72×10-06
abnormal thymus morphology Rnf5tm1.1(KOMP)Vlcg HET Early adult 0.00
no spontaneous movement Rnf5tm1.1(KOMP)Vlcg HOM E18.5 0.00
abnormal skin morphology Rnf5tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal skin morphology Rnf5tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged gallbladder Rnf5tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged thymus Rnf5tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal gallbladder morphology Rnf5tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal spleen morphology Rnf5tm1.1(KOMP)Vlcg HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Chest bone N/A heterozygote 100% (2 of 2)
Colon N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 50% (1 of 2)
Diaphragm N/A heterozygote 50% (1 of 2)
Duodenum N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Gonadal fat pad N/A heterozygote Not available
Harderian gland N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Main olfactory bulb N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Olfactory lobe N/A heterozygote 50% (1 of 2)
Oral epithelium N/A heterozygote 50% (1 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Parotid gland N/A heterozygote Not available
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Sublingual gland N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote Not available
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
chest bone Unavailable
colon 7.5% (9 of 120)
cranium
diaphragm 0.0%
duodenum 1.69% (2 of 118)
epididymis 13.49% (17 of 126)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.36% (2 of 557)
hindlimb 0.0%
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
ileum 10.92% (13 of 119)
jejunum 5.13% (6 of 117)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
stomach pyloric region 0.0%
striatum 0.54% (3 of 556)
sublingual gland 0.0%
submandibular gland 0.83% (1 of 121)
testis 1.08% (6 of 557)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
tongue 4.2% (5 of 119)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.26% (12 of 368)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

Adult LacZ

LacZ Images Section

121 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

X-ray

XRay Images Hind Leg and Hip

36 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

X-ray

XRay Images Forepaw

17 Images

Human diseases caused by Rnf5 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 Rnf5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated hepatic transaminase OMIM:300752
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Irritability, Hepatitis, A... ORPHA:848
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Microcytic anemia, Decreased liver function, Cirrhosis ORPHA:79278
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hemolytic anemia OMIM:177000
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... OMIM:232800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Increased mean corpuscular hemoglobin c... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, L... ORPHA:53035
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic liver disease, D... ORPHA:79095
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Isolated Biliary Atresia
Cholestasis, Periportal fibrosis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Primary Sclerosing Cholangitis
Cholelithiasis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Ppoma
Cholelithiasis, Primary hyperparathyroidism, Parathyroid adenoma, Increased circulating prolactin... ORPHA:97278
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Sialuria
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Grfoma
Cholelithiasis, Primary hyperparathyroidism, Parathyroid adenoma, Increased circulating prolactin... ORPHA:97261
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated hepatic transaminase OMIM:614886
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Low frustration tolerance, Cryptorchidism, Aggressive behavior, Decreased testicu... OMIM:300534
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis, Hepatic cysts OMIM:612284
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Metachromatic Leukodystrophy
Emotional lability, Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Hypoparathyroidism, Asplenia, Chronic active hepatitis, Prem... OMIM:240300
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Impulsivity, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Autoimmune thrombocytopenia, Splenomegaly, Decreased liver funct... ORPHA:77293
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Splenomegaly, Hepatomegaly, Decreased liver function, Hypoplastic nipples OMIM:618268
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Pancreatic cysts, Cholestasis, Bile duct proliferation, Hepat... OMIM:208540
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Aggressive behavior OMIM:301066
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia, Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Cirrhosis ORPHA:774
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Cryptorchidism, Biliary tract abnormality, Asplenia OMIM:156810
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Intrahepatic cholestasis, Elevated hepatic tr... OMIM:607330
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Porphyria, Congenital Erythropoietic
Cholelithiasis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Aggressive behavior ORPHA:464738
Caroli Syndrome
Hepatic failure, Leukocytosis, Leukopenia, Portal hypertension, Cholangitis, Cholangiocarcinoma, ... ORPHA:480520
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder ORPHA:1335
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Chron... ORPHA:100086
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Pancreatic cysts, Cholestasis, Bile d... OMIM:267010
Bohring-Opitz Syndrome
Cholelithiasis, Cardiomegaly, Happy demeanor, Annular pancreas ORPHA:97297
Cerebrotendinous Xanthomatosis
Cholelithiasis, Suicidal ideation, Aggressive behavior, Prolonged neonatal jaundice, Personality ... ORPHA:909
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Gra... ORPHA:562639
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Steinert Myotonic Dystrophy
Cholelithiasis, Anxiety, Ovarian carcinoma, Aggressive behavior, Secondary hyperparathyroidism, T... ORPHA:273
22Q11.2 Deletion Syndrome
Cholelithiasis, Cryptorchidism, Anxiety, Splenomegaly, Hypoparathyroidism, Bipolar affective diso... ORPHA:567
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Anemia, Abnormality of the spleen... ORPHA:2072
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruct... ORPHA:400
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Cholecystitis, Depression, Neoplasm of the gallbladder ORPHA:309271
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cryptorchidism, Pancreatic hypoplasia, Hepatomegaly, Severe B lymphocytopenia, B ... ORPHA:83617
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Trisomy 8P
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Parathyroid agenesis, Splenomegaly, Ovarian cyst, Anemia, Bipo... OMIM:188400
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Anemia, Absent gallbladder, Thrombocytopenia ORPHA:163979
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity OMIM:615272
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:2255
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Hardikar Syndrome
Hepatic failure, Hepatosplenomegaly, Portal hypertension, Cholestasis, Cholangitis, Bile duct pro... OMIM:301068
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,... ORPHA:77259
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Hepatosplenomegaly, Portal hypertension, Pancreatic cysts, Chole... ORPHA:731
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm of the liver... ORPHA:100085
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged polycystic ovaries, Anemia, Panc... ORPHA:2869
Opitz gbbb syndrome, type II
Cryptorchidism, Absent gallbladder OMIM:145410
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Trisomy 10P
Absent gallbladder ORPHA:171929
Triploidy
Cryptorchidism, Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:3376
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Zttk Syndrome
Absent gallbladder OMIM:617140
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Ascites, Jaundice, Hepatitis, Abnormalit... ORPHA:186
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Inappropriate behavior, Jaundice, Biliary atresia ORPHA:3310
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Williams Syndrome
Cholelithiasis, Polycystic ovaries, Cryptorchidism, Anxiety, Cardiomegaly, Depression ORPHA:904
Familial Adenomatous Polyposis
Hepatoblastoma, Biliary tract obstruction, Cholangiocarcinoma, Neoplasm of the gallbladder, Pancr... ORPHA:733
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Elevated hep... OMIM:261515
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
Peters-Plus Syndrome
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder OMIM:261540
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:613610
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Abnormality of the ductus choledochus, Peritoneal abscess, Hepatitis... ORPHA:436252
Vacterl/Vater Association
Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:887
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:619525
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Decre... OMIM:613658
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Bile duct proliferation, Splenomegaly, Asplenia, Malformation o... OMIM:249000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, Portal hypertensi... OMIM:619534
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Proteus Syndrome
Testicular neoplasm, Splenomegaly, Ovarian neoplasm, Thymus hyperplasia, Enlarged polycystic ovar... ORPHA:744
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Self-injurious behavior, Abnormality of the gallbladder ORPHA:818
Wolf-Hirschhorn Syndrome
Cryptorchidism, Abdominal situs inversus, Abnormality of the gallbladder ORPHA:280

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 Rnf5

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 Rnf5.

No publications found that use IMPC mice or data for Rnf5.

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MGI Allele Allele Type Produced
Rnf5tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Rnf5tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rnf5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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