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Gene: Tmsb4x MGI:99510

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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:
thymosin, beta 4, X chromosome
Synonyms:
Tb4,  Ptmb4,  Tbeta4

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 Tmsb4x 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 Tmsb4x by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Factor Vii Deficiency
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intramuscular hematoma, Intracranial hemorrhage... OMIM:227500
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Stroke, Cerebral cavernous malformation OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Intracranial hemorrhage, Stroke OMIM:105150
Hemophilia A
Gastrointestinal hemorrhage, Oral cavity bleeding, Intramuscular hematoma, Joint hemorrhage, Blee... ORPHA:98878
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... OMIM:613225
Familial Cervical Artery Dissection
Stroke, Transient ischemic attack, Dilatation of the cerebral artery, Hypertension, Cerebral isch... ORPHA:36382
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Intramuscular hematoma, Prolonged prothrombin t... OMIM:227600
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Vasospasm, Cerebral hemorrhage, Subarachnoid hemorrhage, Transient ischemic attac... ORPHA:284388
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Epistaxis, Myocardial fibrosis, Gastrointestinal hemorrhage, Su... ORPHA:465
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Snakebite Envenomation
Rhabdomyolysis, Ecchymosis, Angioedema, Stroke, Muscle fiber necrosis, Cardiogenic shock, Gingiva... ORPHA:449285
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... ORPHA:853
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Transient ischemic attack, Hyperte... ORPHA:231160
Sneddon Syndrome
Stroke, Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Ischemic stroke OMIM:182410
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
Familial Afibrinogenemia
Gingival bleeding, Cerebral hemorrhage, Joint swelling, Abnormal bleeding, Epistaxis ORPHA:98880
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Cerebral Amyloid Angiopathy, App-Related
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Bruising susceptibility, Aortic valve stenosis, Gastrointestina... ORPHA:99147
Fibronectin Glomerulopathy
Cerebral hemorrhage, Pedal edema, Hypertension ORPHA:84090
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Cerebral hemo... ORPHA:136
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Stroke, Ascites, Hypert... OMIM:115197
Fetal Gaucher Disease
Flexion contracture, Hydrops fetalis, Arthrogryposis multiplex congenita, Neonatal death, Intracr... ORPHA:85212
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Abnormal left ventricle morphology, Cerebral hemorrh... OMIM:300845
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Prolonged prothrombin time, Shock, Internal hemorrhage ORPHA:49566
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... ORPHA:31825
Primary Angiitis Of The Central Nervous System
Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis, Stroke ORPHA:140989
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Hypertension, Cerebral hemorrhage, Ischemic stroke ORPHA:280679
Dengue Fever
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... ORPHA:99828
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Polycythemia Vera
Cerebral ischemia, Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Hyper... ORPHA:464321
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Hypertension OMIM:133100
Familial Multiple Nevi Flammei
Pulmonary embolism, Edema, Intracranial hemorrhage, Arrhythmia ORPHA:624
Wyburn-Mason Syndrome
Gingival bleeding, Cerebral hemorrhage, Subarachnoid hemorrhage, Abnormal cerebral vascular morph... ORPHA:53719
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Vascular Hyalinosis
Hematochezia, Subarachnoid hemorrhage OMIM:277175
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Oral cavity bleeding, Menorrhag... ORPHA:324636
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Left ventricular hypertrophy, Subcuta... ORPHA:335
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Stroke, Arteritis, Upper limb muscle weakness, Vasculiti... ORPHA:494424
Tempi Syndrome
Telangiectasia, Transudative pleural effusion, Intracranial hemorrhage, Ascites ORPHA:284227
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Stroke, Cerebral hemorrhage OMIM:263400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... ORPHA:369929
Dural Sinus Malformation
Cerebral edema, Stroke, Cerebellar hemorrhage, Subarachnoid hemorrhage, Subdural hemorrhage, Cere... ORPHA:97339
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Cerebral edema, Congestive heart failure, Cerebellar hemorrhage, Hypertro... ORPHA:99901
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Mucosal telangiectasiae, Gastrointestinal hemorrhage, Congestive heart failu... ORPHA:774
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time ORPHA:3226
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Angina pecto... OMIM:177850
Pseudo-Torch Syndrome 2
Petechiae, Patent ductus arteriosus, Bradycardia, Pleural effusion, Secundum atrial septal defect... OMIM:617397
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Hypophosphatasia, Infantile
Polyhydramnios, Intracranial hemorrhage, Stillbirth OMIM:241500
Menkes Disease
Intracranial hemorrhage OMIM:309400
Propionic Acidemia
Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Limb hypertonia OMIM:606054
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Pleural effusion, Epidural hemor... ORPHA:464329
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Bruising susceptibility, Aortic regurgitation, Abnormal left ventricular function, P... ORPHA:91387
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Cocaine Intoxication
Hypovolemia, Rhabdomyolysis, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Pul... ORPHA:90068
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral arteriovenous malformation, Spontaneous, recurrent... OMIM:610655
Wiskott-Aldrich Syndrome
Hematochezia, Bruising susceptibility, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia... ORPHA:906
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Pleural effusion, Capillar... ORPHA:340
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Hellp Syndrome
Hypotension, Pleural effusion, Internal hemorrhage, Cerebral hemorrhage, Prolonged prothrombin ti... ORPHA:244242
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:276621
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Nail bed telangiectasia, Fingerpad telangiectases, Cerebral arteriovenous malformat... OMIM:600376
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral valve calcification, Hypertension, Ventri... ORPHA:363618
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Intracranial hemorrhage, Lymphedema, Myopathy, Telangiectasia, Angina pe... ORPHA:109
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Telang... OMIM:187300
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Mirage Syndrome
Petechiae, Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Classic Homocystinuria
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Pulmonary embolism, Hypertension, Cerebral ... ORPHA:394
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Arrhythmia, Increased muscle lipid content, Knee flexion contracture, Ant... OMIM:608836
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Dilated cardiomyopathy, Angioedema, Congestive heart failure, Skeletal mu... ORPHA:3260
Nelson Syndrome
Lower limb muscle weakness, Intracranial hemorrhage, Hypertension, Quadriceps muscle atrophy ORPHA:199244
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage OMIM:619714
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:29072
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Abnormal heart morphology ORPHA:79284
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Atrial septal defect, Heart murmur, Ventricular septal defect, Intracra... ORPHA:163979
Kyphoscoliotic Ehlers-Danlos Syndrome
Bruising susceptibility, Skeletal muscle atrophy, Dextrocardia, Myopathy, Subdural hemorrhage, Bi... ORPHA:536545
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Stroke, Hydrops fetalis, Pulmonary embolism, Pulmonary arterial hypertens... ORPHA:79282
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Superficial Siderosis
Persistent bleeding after trauma, Lower limb muscle weakness, Abnormal bleeding, Subarachnoid hem... ORPHA:247245
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Spontaneous hematomas, Intracranial hemorrh... ORPHA:565
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Neonatal death, Prolonged prothrombin time OMIM:619055
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pleural effusion, Elevated pulmonary artery pressure, Pedal edema, H... ORPHA:199241
Parkes Weber Syndrome
High-output congestive heart failure, Lower limb muscle weakness, Cerebral arteriovenous malforma... ORPHA:90307
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Aortic valve steno... ORPHA:740
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Arachnoid Cyst
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage ORPHA:2356
Cockayne Syndrome Type 3
Flexion contracture, Stroke, Retinal hemorrhage, Skeletal muscle atrophy, Increased blood pressur... ORPHA:90324
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Hydranencephaly
Abnormal cerebral artery morphology, Dilatation of the ventricular cavity, Antenatal intracerebra... ORPHA:2177
Acute Liver Failure
Cerebral edema, Bruising susceptibility, Gastrointestinal hemorrhage, Shock, Hypotension, Abnorma... ORPHA:90062
Dpagt1-Cdg
Anasarca, Flexion contracture, Prolonged QT interval, Camptodactyly, Stroke-like episode, Intracr... ORPHA:86309
Acute Transverse Myelitis
Orthostatic hypotension, Upper limb muscle weakness, Hypertension, Distal lower limb muscle weakn... ORPHA:139417
Visceral Steatosis, Congenital
Neonatal death, Abnormal bleeding, Myocardial steatosis OMIM:228100
Meningioma
Cerebral hemorrhage, Lower limb muscle weakness, Upper limb muscle weakness, Syncope, Facial palsy ORPHA:2495
Riddle Syndrome
Intraventricular hemorrhage, Telangiectasia, Conjunctival telangiectasia ORPHA:420741
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Cardiomy... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Cardiomy... ORPHA:363958
Loeys-Dietz Syndrome 3
Bruising susceptibility, Patent ductus arteriosus, Atrial septal defect, Tortuous cerebral arteri... OMIM:613795
Osteogenesis Imperfecta
Abnormal endocardium morphology, Bruising susceptibility, Flexion contracture, Aortic regurgitati... ORPHA:666
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Abnormal left ventricular function, Cerebral artery atherosclerosis, ... ORPHA:391665
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Hypovolemia, Shock, Hypotension, ... ORPHA:99826
Viss Syndrome
Bruising susceptibility, Right ventricular dilatation, Contracture of the proximal interphalangea... OMIM:619472
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Corneal neovascularization, Facial paralysis, Ischemic stroke OMIM:175780
Yellow Fever
Reduced ejection fraction, Shock, Capillary leak, Excessive bleeding after a venipuncture, Intern... ORPHA:99829
Hepatocellular Carcinoma
Anasarca, Portal hypertension, Hypotension, Pedal edema, Budd-Chiari syndrome, Ascites, Internal ... ORPHA:88673
Pmm2-Cdg
Anasarca, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Ang... ORPHA:79318
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Bruising susceptibility, Abnormal heart valve morphology, Mitral valve prolapse, Telangiectasia o... ORPHA:286

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 Tmsb4x

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 Tmsb4x.

No publications found that use IMPC mice or data for Tmsb4x.

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MGI Allele Allele Type Produced
Tmsb4xtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmsb4xtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tmsb4xtm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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