Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
F-box and WD-40 domain protein 5
Synonyms:
Fbw5

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.

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.

Phenotype associated images not available

Human diseases caused by Fbxw5 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 Fbxw5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Prolonged QT interval, Ventricular septal d... OMIM:601005
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Recurrent lower respiratory tract infections OMIM:619170
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:212140
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Pleural effusion, Hepatomegal... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly, Asymmetric septal hyper... OMIM:252920
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Mitral valv... ORPHA:324410
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatomegal... ORPHA:99931
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Recurrent lower respiratory tra... OMIM:253250
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Recurrent pneumonia, Atrial flutter, Patent foramen ovale, Reduced ejection ... ORPHA:980
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Neuraminidase Deficiency
Cardiomegaly, Cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:256550
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Pneumonia, Arrhy... ORPHA:99104
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, P... ORPHA:3384
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Recurrent resp... OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory tract infection, He... ORPHA:308552
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Cardi... OMIM:201475
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect, Pulmonary hypoplasia OMIM:617022
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Sickle Cell Anemia
Hypertension, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Pulmonary... OMIM:616897
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Sple... ORPHA:465508
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Atrial s... ORPHA:95430
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia ORPHA:79280
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Hepatomegaly, Pulmonary arterial hypertension, Vent... OMIM:614921
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Sandhoff Disease
Cardiomegaly, Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Arrhythmia, Hepatomegaly, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:252500
Fucosidosis
Cardiomegaly, Recurrent respiratory infections, Splenomegaly, Hepatomegaly OMIM:230000
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonar... OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorr... OMIM:608836
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Cardiomegaly, Pulmonary hypoplasia OMIM:608013
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory tract infection, Tr... ORPHA:365
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Recurrent respiratory infections, Pulmonary fibrosis, Ventricul... OMIM:618278
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Reduced ejection fraction, Abnormal mitral valve morphology, Sple... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Bohring-Opitz Syndrome
Bradycardia, Cardiomegaly, Recurrent respiratory infections, Abnormal cardiac septum morphology ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Singleton-Merten Syndrome 1
Congestive heart failure, Subvalvular aortic stenosis, Mitral valve calcification, Recurrent resp... OMIM:182250
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Congestive heart failure ORPHA:14
Aicardi-Goutières Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Raynaud phenomenon ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Arrhythmia, Congestive heart failure, Splenomegaly,... OMIM:256040
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary arterial hypertension, Renovascular hyperten... ORPHA:3472
Williams Syndrome
Hypertension, Ventricular septal defect, Mitral regurgitation, Cardiomegaly, Overriding aorta, Co... ORPHA:904
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Weak pulse, Myocardial calcification, Retinal hemorrhage, ... ORPHA:51608
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Visceromegaly, Cardiome... ORPHA:116

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 Fbxw5

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 Fbxw5.

No publications found that use IMPC mice or data for Fbxw5.

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MGI Allele Allele Type Produced
Fbxw5tm293628(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fbxw5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fbxw5tm213629(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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