Gene Summary

Name:
Ras association (RalGDS/AF-6) domain family member 1
Synonyms:
RDA32,  REH3P21,  Rassf1A,  NORE2A,  123F protein,  Rassf1B,  Rassf1C

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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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.

Legacy Phenotype Associated Images

View all 232 images

Human diseases caused by Rassf1 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 Rassf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Thyroid carcino... ORPHA:157794
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Mechanical ileus, Ileal adenocarcinoma, Midgut malrotation, Appendic... ORPHA:100079
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Dysphagia, Intestinal obstruction OMIM:606764
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa... ORPHA:97286
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... OMIM:300280
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,... OMIM:235200
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Neoplasm of the gallbladder, Ulcera... ORPHA:171
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Diamond-Blackfan Anemia
Malignant genitourinary tract tumor, Cleft soft palate, Acute myeloid leukemia, Adenocarcinoma of... ORPHA:124
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L... ORPHA:308552
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tu... ORPHA:139411
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt... ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Right bundle branch block... ORPHA:268
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri... OMIM:232300
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Pu... OMIM:614921
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension OMIM:268800
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo... ORPHA:91387
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag... OMIM:608836
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa ORPHA:79280
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly OMIM:620306
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Common Variable Immunodeficiency
Anal atresia, Lymphoma, Gastrointestinal stroma tumor ORPHA:1572
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
17Q11 Microdeletion Syndrome
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... ORPHA:97685
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:252500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... ORPHA:581
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Cardio... ORPHA:365
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Cerebral hemorr... OMIM:620371
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure ORPHA:14
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Dermatomyositis
Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Dysphagia, Breast carcinoma ORPHA:221
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon ORPHA:51
Williams Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Cerebral ischemia, Su... ORPHA:904
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatomegaly OMIM:256040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Myocar... ORPHA:51608
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... ORPHA:116
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... OMIM:182250

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 Rassf1

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 Rassf1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rassf1tm1.2Brd PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rassf1tm1.2Brd Rassf1tm1.2Brd PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rassf1tm1.2Brd PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)