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
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... ORPHA:157794
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Colon cancer, Re... OMIM:174900
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... ORPHA:3092
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... OMIM:115197
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... ORPHA:615
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the colon, Appendiceal mucinous neoplas... ORPHA:100079
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... OMIM:300257
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Ne... ORPHA:424016
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... ORPHA:57777
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... ORPHA:1677
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... OMIM:261740
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neurofibromas, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiomegaly, Congestive h... OMIM:212140
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart failure OMIM:269920
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, Gastrointestinal... ORPHA:97286
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, Ulcerative c... ORPHA:171
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Blackfan-Diamond Anemia
High palate, Malignant genitourinary tract tumor, Adenocarcinoma of the colon, Myelodysplasia, Os... ORPHA:124
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Familial Aortic Dissection
Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... ORPHA:363705
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly OMIM:105210
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Heart mur... ORPHA:308552
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly ORPHA:42
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... ORPHA:139411
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Portal hypertension, Cardiomegaly, Cardiomyopathy, Conges... ORPHA:465508
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Reduced left ventricular ejection fraction, Abnormal EKG, Right bu... ORPHA:268
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... ORPHA:137675
Sickle Cell Anemia
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... OMIM:232300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:616897
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Cardiomyopathy, Cardiomegaly, Hypovolemic shock ORPHA:158687
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Dilated... OMIM:614921
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Bicuspid aortic valve, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Enlarged kidney, Dilated cardiomyopathy, Antenatal intracerebral hemorr... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Common Variable Immunodeficiency
Anal atresia, Lymphoma, Gastrointestinal stroma tumor ORPHA:1572
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Breast carcinoma, Gastr... ORPHA:97685
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Mitral regurgitation, Heart murmur, Enlarged kidney, Aortic regurgita... OMIM:252500
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Vasculiti... ORPHA:365
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Splenomegaly, Abnormal ao... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma ORPHA:221
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Secundum atrial ... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly, Bradycardia ORPHA:97297
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure ORPHA:14
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Raynaud phenomenon ORPHA:51
Williams Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Overriding aorta... ORPHA:904
Liver Disease, Severe Congenital
Abnormal left ventricular function, Atrial septal defect, Hepatomegaly, Splenomegaly, Systolic he... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomegaly, Congestive heart failure OMIM:256040
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Weak pulse, Retinal hemorrhage, Pericardial effusion, Left ventricular systolic dysfunction, Vent... ORPHA:51608
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... ORPHA:116
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... 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) Rassf1tm1.2Brd