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Gene: Thbs4 MGI:1101779

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
thrombospondin 4
Synonyms:
TSP-4,  TSP4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Thbs4 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 Thbs4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... OMIM:612201
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Attrv30M Amyloidosis
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Congestive heart failure, Hypertrophic cardiomyopathy... OMIM:614096
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect, Hypert... OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Familial Atrial Myxoma
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619064
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Small for gestational age, Hypertrophic cardiomyopathy, Failure to thrive, ... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Small for gestat... ORPHA:555874
Infantile Sialic Acid Storage Disease
Congestive heart failure, Failure to thrive, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thr... OMIM:212140
Congenital Toxoplasmosis
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly ORPHA:858
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... OMIM:619051
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... ORPHA:3093
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... ORPHA:324410
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:266500
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... OMIM:235200
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly OMIM:253250
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... ORPHA:75565
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Failure to thrive, Hepatomegaly, C... ORPHA:99931
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Hypertrop... ORPHA:308552
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Cachexia, Hepatomegaly, Arrhythmia ORPHA:42
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... OMIM:261740
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function ORPHA:229
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Large for ... OMIM:239850
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, He... OMIM:201475
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Elevated jugular venous pressure, Congestive heart failure, Hepatomegaly, Arrhythmia... ORPHA:465508
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Pericar... ORPHA:363705
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Cardiomegaly... ORPHA:268
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy OMIM:619259
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Fucosidosis
Cardiomegaly, Failure to thrive, Hepatomegaly ORPHA:349
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... ORPHA:137675
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
Sickle Cell Disease
Hypertension, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, H... OMIM:232300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa, Telangiectasia of the skin ORPHA:79280
Sandhoff Disease
Orthostatic hypotension, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... OMIM:614921
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae, Eunuchoid habitus ORPHA:2463
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hepatomegaly, Arrhythmia, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Congenital Tracheomalacia
Pulmonary arterial hypertension, Ventricular septal defect, Single ventricle, Atrial septal defec... ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Hypovolemia, Transient ischemic attack, Bicuspid aortic valve, Hypertension, Aor... ORPHA:91387
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonary arterial hypertension, Facial telangiectasia, Ventricular septal defect, Pulmonic steno... OMIM:602782
Mogs-Cdg
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:79330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly, Arrhyt... OMIM:608836
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Heart murmur, Transient ischemic attack, Left ventric... ORPHA:365
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Failure to thrive, Hepatomegaly, Cardiomegaly OMIM:618278
Mucolipidosis Ii Alpha/Beta
Heart murmur, Enlarged kidney, Congestive heart failure, Aortic regurgitation, Hypertrophic cardi... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Bohring-Opitz Syndrome
Cardiomegaly, Bradycardia, Severe failure to thrive, Abnormal cardiac septum morphology ORPHA:97297
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Abetalipoproteinemia
Cardiomegaly, Failure to thrive, Congestive heart failure, Hepatomegaly ORPHA:14
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Reduced left ventricular ejection fraction, Abnormal aortic val... ORPHA:581
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Ogden Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Torsade de pointes, Supraventricular tachy... OMIM:300855
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Decreased body weight, Congestive heart failure, Aortic valve stenos... OMIM:182250
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Raynaud phenomenon, Cardiomegaly, Hepatosplenomegaly ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Failure to thrive, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly OMIM:256040
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Hypertension, Atrial septal defect, S... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Ventricular hypertrophy, Retinal hemorrhage, Pericardial effusio... ORPHA:51608
Beckwith-Wiedemann Syndrome
Enlarged kidney, Large for gestational age, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomeg... ORPHA:116
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Systolic heart murmur, Dilatation of the ventr... OMIM:619991
Williams Syndrome
Sudden cardiac death, Abnormal cardiac septum morphology, Supravalvular aortic stenosis, Hypertro... ORPHA:904

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 Thbs4

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 Thbs4.

No publications found that use IMPC mice or data for Thbs4.

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MGI Allele Allele Type Produced
Thbs4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Thbs4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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