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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
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula... OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
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
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Pulmonary arterial hypertension OMIM:619064
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion, ... OMIM:614702
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Infantile Sialic Acid Storage Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocar... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur... OMIM:620609
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri... ORPHA:3427
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... OMIM:300280
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, H... ORPHA:99931
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,... OMIM:235200
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventric... ORPHA:308552
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Cardiomegaly, Arrhythmia ORPHA:42
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cantu Syndrome
Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti... OMIM:239850
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... OMIM:201475
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Small for gestational age OMIM:613320
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt... ORPHA:465508
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Small for gestational age, Ventricular septal defect OMIM:616897
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Right bundle branch block... ORPHA:268
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Fucosidosis
Hepatomegaly, Cardiomegaly, Failure to thrive ORPHA:349
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri... OMIM:232300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension OMIM:268800
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Pu... OMIM:614921
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation OMIM:620306
Congenital Tracheomalacia
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... ORPHA:95430
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Eunuchoid habitus, Mucosal telangiectasiae ORPHA:2463
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Macular edema, Abnormal retinal vascular morphology, Retinal neovascularizatio... ORPHA:247691
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly OMIM:608013
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag... OMIM:608836
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Failure to thrive, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened ... ORPHA:365
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, S... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat... OMIM:300967
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
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Failure to thrive OMIM:230000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:618278
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Decreased body weight, Cardiomegaly, Vitreous hemo... OMIM:620371
Bohring-Opitz Syndrome
Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal aortic... ORPHA:581
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Failure to thrive, Congestive heart failure ORPHA:14
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vas... OMIM:620376
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Decreased body weigh... OMIM:182250
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatomegaly OMIM:256040
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon ORPHA:51
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Severe failure to t... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Failure to thrive in infancy, Left ventricular systolic dysfunction, Tra... ORPHA:51608
Liver Disease, Severe Congenital
Failure to thrive, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Vent... OMIM:619991
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Obesity, Large for gestational age, Splenomegaly, Car... ORPHA:116
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov... 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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