Gene Summary

RUN and FYVE domain containing 3
2810428M05Rik,  Rpipx,  D5Bwg0860e,  6330416M07Rik

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 stomach morphology Rufy3tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Rufy3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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Viewing: all phenotypes
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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  Wholemount images heterozygote Ambiguous
Aorta  Wholemount images heterozygote Ambiguous
Bone  Wholemount images heterozygote Ambiguous
Brain  Wholemount images heterozygote 100% (4 of 4)
Cecum  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images heterozygote Ambiguous
Epididymis  Wholemount images heterozygote Not available
Esophagus  Wholemount images heterozygote 100% (4 of 4)
Eye  Wholemount images heterozygote 100% (4 of 4)
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hindlimb  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote 100% (4 of 4)
Large intestine  Wholemount images heterozygote Ambiguous
Liver  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 100% (4 of 4)
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Main olfactory bulb  Wholemount images heterozygote 100% (4 of 4)
Mesenteric lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote Not available
Pancreas  Wholemount images heterozygote 100% (4 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Parotid gland  Wholemount images heterozygote 100% (4 of 4)
Penis  Wholemount images heterozygote 50% (2 of 4)
Peyer's patch  Wholemount images heterozygote Ambiguous
Pituitary gland  Wholemount images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images heterozygote Ambiguous
Submandibular gland  Wholemount images heterozygote Ambiguous
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images heterozygote 100% (4 of 4)
Urinary bladder  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vagina  Wholemount images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images heterozygote Not available
Brainstem N/A heterozygote 100% (4 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Ambiguous
Cerebellum N/A heterozygote 75% (3 of 4)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Colon N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 100% (4 of 4)
Hypothalamus N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 100% (4 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Ambiguous
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Ambiguous
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 100% (4 of 4)
Thalamus N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

53 Images

Human diseases caused by Rufy3 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 Rufy3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Tumor Predisposition Syndrome 4
Stomach cancer OMIM:609265
Hernia, Hiatus
Hiatus hernia OMIM:142400
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Perching Syndrome
Cyanosis OMIM:617055
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Breath-Holding Spells
Cyanosis OMIM:607578
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Intussusception OMIM:147710
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Buerger Disease
Acrocyanosis ORPHA:36258
Tricuspid Atresia
Cyanosis ORPHA:1209
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis OMIM:265120
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Congenital Heart Block
Cyanosis ORPHA:60041
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Restrictive Dermopathy 2
Cyanosis OMIM:619793
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Dravet Syndrome
Cyanotic episode ORPHA:33069
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Tetrasomy 5P
Cyanosis ORPHA:3309
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Choanal Atresia
Cyanosis ORPHA:137914
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Criss-Cross Heart
Cyanosis ORPHA:1461
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis ORPHA:555874
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Acrocyanosis, Cutis marmorata, Purpura ORPHA:183
Acrocyanosis, Vascular skin abnormality ORPHA:349
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Meckel Syndrome 14
Cyanosis OMIM:619879
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis OMIM:252010
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Tarp Syndrome
Cyanosis ORPHA:2886
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Myasthenia Gravis
Acrocyanosis ORPHA:589
Pulmonary Alveolar Microlithiasis
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Histiocytoid Cardiomyopathy
Cyanosis ORPHA:137675
Esophageal Atresia
Cyanosis ORPHA:1199
Poems Syndrome
Acrocyanosis ORPHA:2905
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... OMIM:301068
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Heterotaxy, Visceral, 1, X-Linked
Cyanosis OMIM:306955
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... ORPHA:740
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Postinfectious Vasculitis
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin ORPHA:48435
Cutaneous photosensitivity, Acrocyanosis, Telangiectasia of the skin, Erythema ORPHA:221
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Aortic Arch Interruption
Cyanosis ORPHA:2299
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Truncus Arteriosus
Cyanosis ORPHA:3384
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Goodpasture Syndrome
Cyanosis OMIM:233450
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... ORPHA:904
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125


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 Rufy3

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 Rufy3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Neuronally Enriched RUFY3 Is Required for Caspase-Mediated Axon Degeneration. Neuron (June 2019) Rufy3tm1a(EUCOMM)Hmgu Rufy3tm1b(EUCOMM)Hmgu 31221560

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MGI Allele Allele Type Produced
Rufy3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rufy3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rufy3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rufy3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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