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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
increased anxiety-related response Thoc6em5(IMPC)Tcp HET Early adult 9.34×10-07
decreased locomotor activity Thoc6em5(IMPC)Tcp HET Early adult 3.73×10-07
decreased exploration in new environment Thoc6em5(IMPC)Tcp HET   Early adult 8.12×10-06
enlarged ovary Thoc6em5(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Thoc6em5(IMPC)Tcp HOM   E12.5 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
abnormal embryo size Thoc6em5(IMPC)Tcp HOM E9.5 0.00
embryonic growth retardation Thoc6em5(IMPC)Tcp HOM E9.5 0.00
decreased vertical activity Thoc6em5(IMPC)Tcp HET Early adult 1.04×10-13
abnormal lung morphology Thoc6em5(IMPC)Tcp HET Early adult 0.00
shortened QRS complex duration Thoc6em5(IMPC)Tcp HET   Early adult 2.19×10-05

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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.

Gross Pathology and Tissue Collection

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OPT E9.5

Embryo reconstruction

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

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Histopathology

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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, Left-to-right shunt, Hypospadias, 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
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma... ORPHA:3077
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy, Cognitive i... ORPHA:1177
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Ataxia-Telangiectasia
Recurrent respiratory infections, Ataxia, Telangiectasia of the skin, Polycystic ovaries, Gait di... ORPHA:100
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Cln3 Disease
Ataxia, Aggressive behavior, Mental deterioration, Depression, Bradykinesia, T-wave inversion, De... ORPHA:228346
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, First degree atrioventricular block, Sudden cardiac death, Atrioven... OMIM:310300
Opitz Gbbb Syndrome
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Dysphagia, Bi... ORPHA:2745
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Cardiomyopathy, Polydipsia, Increased pineal vo... ORPHA:769
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Neoplasm of ... ORPHA:2869
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Nathalie Syndrome
Abnormal EKG OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Recessive Mitochondrial Ataxia Syndrome
Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Cognitive impairment, Dysphagia, Limb ... ORPHA:94125
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary g... ORPHA:2298
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Complete Atrioventricular Septal Defect
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cardiomegaly, Right ventricular fai... ORPHA:1329
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... ORPHA:330001
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Ovarian cyst, Hypertension, Agitation, Mental deterioration, Emotional lability OMIM:610475
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Rett Syndrome
Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Abnormal T-wave, Motor deterioration, Prolong... OMIM:312750
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Genital ulcers, Sple... OMIM:602450
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se... ORPHA:201
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Polycystic ovaries ORPHA:79084
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Ti... OMIM:310200
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Polycystic ova... ORPHA:275555
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Ataxia, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infection... OMIM:613179
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Dextrocardia
Abnormal EKG, Abnormal reproductive system morphology, Abnormality of the spleen, Abnormal lung l... ORPHA:1666
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Peripartum Cardiomyopathy
Tachycardia, Left ventricular systolic dysfunction, Right ventricular failure, Cardiogenic shock,... ORPHA:563
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... ORPHA:335
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Inability to walk, Right bundle branch block, Tip-toe gait, Reduced l... ORPHA:268
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Polycystic ovaries ORPHA:280356
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Ataxia, Respiratory tract infection, Dysmetria, Hepatosplenomegaly, T... ORPHA:93400
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Lymphangioma, Splenomegaly, Neopla... ORPHA:744
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Recurrent upper respiratory tract infections, Attention deficit hyperactivity dis... ORPHA:284180
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Jaw claudication, Abnormal pulmonary int... ORPHA:85443
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Friedreich Ataxia
Abnormal EKG, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hypertrophic cardiomyop... OMIM:229300
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... OMIM:601214
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, ST segment el... OMIM:261740
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Ataxia, Polycystic ovaries ORPHA:1227
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Hepatomegaly, Right axis deviat... OMIM:232300
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage ORPHA:327
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Left ventricula... ORPHA:860
Cystic Echinococcosis
Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Abnormality of the testis size, Ovarian c... ORPHA:400
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertrophic cardiomyop... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertension, Hypertrop... ORPHA:79083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Alternating Hemiplegia Of Childhood
Ataxia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... ORPHA:2131
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Pneumonia, Absent tonsils, Hepatomegaly ORPHA:276
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Congestive heart f... ORPHA:528
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,... ORPHA:980
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Dysphagia, Arrhythmia ORPHA:480864
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc... ORPHA:2969
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior, Polycystic ovaries OMIM:616831
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasi... OMIM:300755
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Lipodystrophy, Familial Partial, Type 3
Hypertension, Polycystic ovaries OMIM:604367
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal EKG, Akinesia, Aggressive behavior, Splenomegaly, Myocarditi... ORPHA:3385
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co... ORPHA:280365
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Pul... ORPHA:1686
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Nodular goiter ORPHA:371428
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Scorpion Envenomation
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Congestiv... ORPHA:466677
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Confusion, Abnormal T-wave, ST segment depression, Hypotension, Le... ORPHA:466650
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... ORPHA:273
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter OMIM:158350
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Ovarian serous... ORPHA:276280
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Fibrous Dysplasia Of Bone
Antalgic gait, Precocious puberty in females, Elevated circulating growth hormone concentration, ... ORPHA:249
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Short Syndrome
Ovarian cyst OMIM:269880
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal cardiovascular system physiology, Polycystic ovaries, Hypertension, Cardio... ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Polycystic ovaries, Cardiomyopathy, Hepatomegaly ORPHA:264580
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Splenic cyst OMIM:618188
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Intestinal bleeding, Precocious puberty with Sertoli cell... OMIM:175200
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cardiomyopathy, Polyphagia, C... OMIM:608594
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Polycystic ovaries, Hepatomegaly ORPHA:79240
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Polydipsia, Salt craving, Raynaud phenomenon, Lo... ORPHA:358
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Cardiac conduction abnor... ORPHA:353281
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Hypertrophic cardiomyopathy, ... OMIM:269700
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Digeorge Syndrome
Parathyroid agenesis, Atelectasis, Splenomegaly, Recurrent pneumonia, Parathyroid hypoplasia, Hyd... OMIM:188400
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Dysmetria, Compulsive behaviors, Ataxia... ORPHA:904
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hypertension, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Epistaxis, Polycystic ovaries, Hypertension, Pulmonary venous hypertension, Cogniti... ORPHA:79259
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure OMIM:601992
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Cardiac conduction abnor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Cardiac conduction abnor... ORPHA:353277
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Hypertension OMIM:311200
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Abnormal T-wave ORPHA:444072
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Micropenis... ORPHA:64
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Left-to-right shunt, Hypospadias, 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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