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Gene: Thoc6 MGI:2677480

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Gene Summary

Name:
THO complex 6
Synonyms:
Wdr58,  F830014G06Rik

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Thoc6em5(IMPC)Tcp HOM   E12.5 0.00
abnormal lung morphology Thoc6em5(IMPC)Tcp HET Early adult 0.00
embryonic growth retardation Thoc6em5(IMPC)Tcp HOM E9.5 0.00
decreased vertical activity Thoc6em5(IMPC)Tcp HET Early adult 2.77×10-06
shortened QRS complex duration Thoc6em5(IMPC)Tcp HET   Early adult 2.19×10-05
abnormal embryo size Thoc6em5(IMPC)Tcp HOM E9.5 0.00
enlarged ovary Thoc6em5(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Thoc6em5(IMPC)Tcp HOM   Early adult 0.00
enlarged lymph nodes Thoc6em5(IMPC)Tcp HET Early adult 0.00
decreased exploration in new environment Thoc6em5(IMPC)Tcp HET   Early adult 4.80×10-16
decreased locomotor activity Thoc6em5(IMPC)Tcp HET   Early adult 1.15×10-06

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
OPT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Histopathology

Images

4 Images

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Human diseases caused by Thoc6 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.

The table below shows human diseases associated to Thoc6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Left-to-right shunt, Endometriosis ORPHA:363444
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680

The table below shows human diseases predicted to be associated to Thoc6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Hemorrhagic ovarian cyst, Pleural effusion, Enlarged polycystic ... ORPHA:64739
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular... OMIM:619126
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Progressive cerebellar ataxia, Abnormal EKG, Cognitive impairment ORPHA:1177
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Ataxia-Telangiectasia
Abnormal testis morphology, Gait disturbance, Cognitive impairment, Polycystic ovaries, Ataxia, T... ORPHA:100
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Atrial arrhythmia, First degree atrioventricular block, Loss of ambulation, Atriov... OMIM:310300
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Neoplasm of the lung, Enlarged polycystic ovaries, Pancreatic adenoc... ORPHA:2869
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Nathalie Syndrome
Abnormal EKG OMIM:255990
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Short attention span, Recurrent aspiration pneumon... ORPHA:2745
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Enlarged polycystic ovaries, Pneumonia, Enlarged ovaries, Pol... ORPHA:2298
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Cardiomyopathy, Precocious puberty, Increased pineal volume, En... ORPHA:769
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Cardiomegaly, Third h... ORPHA:1329
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Hepatomega... ORPHA:330001
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Gait disturbance, Cognitive impairment, Ataxia, Limb dysmetria, Dysmetria ORPHA:94125
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Long penis, Enlarged ovaries, Hypertrophic c... ORPHA:508
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Pneumon... OMIM:602450
Atrial Septal Defect, Ostium Primum Type
Third heart sound, Left ventricular hypertrophy, Right-to-left shunt, Pulmonary arterial hyperten... ORPHA:99106
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hypertension, Hepatomegaly ORPHA:79084
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pulmonary ve... ORPHA:75565
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Congestive heart failure, Cardiomyopathy, Waddling gait, Loss of ambulation, Arrhyt... OMIM:310200
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Coronary Arterial Fistula
Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Elevated jugular venous pre... ORPHA:2041
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Cognitive impairment, A... ORPHA:201
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardio... ORPHA:137675
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Dextrocardia
Abnormal lung lobation, Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormality o... ORPHA:1666
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Splenic rupture, Right ... ORPHA:335
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio... ORPHA:90065
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Ataxia, Splenomegaly, Lymph node hypoplasia, Recurr... OMIM:613179
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Emotional lability, Hypertension, Ovarian cyst, Mental deterioration OMIM:610475
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertension ORPHA:280356
Congenital Sialidosis Type 2
Hepatomegaly, Respiratory tract infection, Ataxia, Hepatosplenomegaly, Abnormal EKG, Dysmetria, T... ORPHA:93400
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Ovarian neoplasm, Pulmonary bulla, Lo... ORPHA:744
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Rett Syndrome
Prolonged QTc interval, Truncal ataxia, Gait apraxia, Gait ataxia, Motor deterioration, Abnormal ... OMIM:312750
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Preeclampsia
Pulmonary edema, Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertensio... ORPHA:275555
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:3085
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Polycystic ovaries, Macroorchidism, Recurrent upper res... ORPHA:284180
Friedreich Ataxia
Limb ataxia, Congestive heart failure, Hypertrophic cardiomyopathy, Gait ataxia, Ataxia, Abnormal... OMIM:229300
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Ca... OMIM:261740
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Ataxia, Abnormal testis morphology ORPHA:1227
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Joint hemorrhage, Epistaxis, Ovarian cyst, Intracranial hemorrhage ORPHA:327
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ... ORPHA:268
Glycogen Storage Disease Ii
Difficulty walking, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Sinus tac... OMIM:232300
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Abnormal subpleural morphology, Abnormality of the testis size, Ovari... ORPHA:400
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormality of blood circulation, C... ORPHA:860
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Abnormal salivary gland ... ORPHA:85443
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ova... ORPHA:2348
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Azoospermia, Urogen... ORPHA:1772
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Absent tonsils, Hepatomegaly, Lymph node hypoplasia ORPHA:276
Absence Of The Pulmonary Artery
Pulmonary edema, Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular... ORPHA:980
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, Splenomegaly, ... ORPHA:79083
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Meige Disease
Absence of lymph node germinal center, Pleural effusion, Lymph node hypoplasia ORPHA:90186
Congenital Generalized Lipodystrophy
Congestive heart failure, Clitoral hypertrophy, Hepatomegaly, Precocious puberty in females, Hype... ORPHA:528
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Proteus-Like Syndrome
Bronchogenic cyst, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parat... ORPHA:2969
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Hypertension,... ORPHA:90795
Agammaglobulinemia, X-Linked
Prostatitis, Recurrent lower respiratory tract infections, Recurrent pneumonia, Recurrent sinusit... OMIM:300755
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Streak ovary, Ab... ORPHA:3464
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Hypertension OMIM:604367
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Supraventricular ar... ORPHA:280365
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Ataxia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,... ORPHA:3109
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Ischemic stroke, Prolonged QT interval, Tachycardia, Supraventricu... ORPHA:90068
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Premature thelarche, Nodular goiter, Atrioventricular block, Polycystic ovaries ORPHA:371428
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Confusion, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST seg... ORPHA:466650
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79085
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Depression, Right bundle branc... ORPHA:70591
African Trypanosomiasis
Myocarditis, Irritability, Congestive heart failure, Akinesia, Difficulty walking, Hepatomegaly, ... ORPHA:3385
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly ORPHA:435660
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Telangiectasia of the skin, Ovarian serous ... ORPHA:276280
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Cowden Syndrome 1
Varicocele, Ovarian cyst, Goiter, Ovarian carcinoma, Hydrocele testis OMIM:158350
Mccune-Albright Syndrome
Abnormal testis morphology, Precocious puberty, Bone marrow hypocellularity, Ovarian cyst, Elevat... ORPHA:562
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Alternating Hemiplegia Of Childhood
Emotional lability, Cardiomyopathy, Cardiac conduction abnormality, Ataxia, Progressive neurologi... ORPHA:2131
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Telangiectasia of the skin ORPHA:2176
Scorpion Envenomation
Myocarditis, Pulmonary edema, Congestive heart failure, Prominent U wave, Hypertension, Premature... ORPHA:466677
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:435651
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst OMIM:617100
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decre... OMIM:241080
Cowden Syndrome 5
Goiter, Ovarian cyst, Hydrocele testis OMIM:615108
Fibrous Dysplasia Of Bone
Difficulty walking, Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian... ORPHA:249
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy, Polycystic... ORPHA:79086
Short Syndrome
Ovarian cyst OMIM:269880
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Splenic cyst OMIM:618188
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:264580
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Ovarian cyst, Intestinal bl... OMIM:175200
Noonan Syndrome
Hepatomegaly, Abnormality of the lymphatic system, Hypertrophic cardiomyopathy, Abnormal EKG, Pul... ORPHA:648
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Steinert Myotonic Dystrophy
Cognitive impairment, Prolonged QRS complex, Decreased response to growth hormone stimulation tes... ORPHA:273
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope ORPHA:230
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79240
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Emotional lability, Depr... ORPHA:110
Carney Complex
Congestive heart failure, Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm... ORPHA:1359
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Polycystic ovaries, Labial hype... OMIM:608594
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ... ORPHA:358
Digeorge Syndrome
Atelectasis, Cholelithiasis, Hypoplasia of the thymus, Recurrent pneumonia, Recurrent sinusitis, ... OMIM:188400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Hypertension, Cognitive impairment, Epistaxis, Polycystic ovaries,... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypertension, Polycystic ovaries, Hepatomegaly OMIM:151660
Williams Syndrome
Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmonic stenosis, Ataxia, Cardiomegaly, De... ORPHA:904
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries... OMIM:269700
Orofaciodigital Syndrome I
Pancreatic cysts, Hypertension, Ovarian cyst OMIM:311200
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Friedreich Ataxia 2
Congestive heart failure, Ataxia, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Abnormal T-wave ORPHA:444072
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Alström Syndrome
Precocious puberty in females, Hypertension, Cognitive impairment, Recurrent sinusitis, Ataxia, S... ORPHA:64
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Left-to-right shunt, Endometriosis ORPHA:363444
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680

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 Thoc6

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 Thoc6.

No publications found that use IMPC mice or data for Thoc6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Thoc6em5(IMPC)Tcp Indel Mice, Tissue
Thoc6tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Thoc6tm451707(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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