Gene Summary

Name:
THO complex 1
Synonyms:
NMP-84,  3110002N20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged heart Thoc1em1(IMPC)Ccpcz HET Early adult 0.00
increased kidney weight Thoc1em1(IMPC)Ccpcz HET Early adult 1.48×10-07
abnormal kidney morphology Thoc1em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Thoc1em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal thymus morphology Thoc1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Thoc1em1(IMPC)Ccpcz HET Early adult 0.00
increased total body fat amount Thoc1em1(IMPC)Ccpcz HET Early adult 5.67×10-05
embryonic lethality prior to organogenesis Thoc1em1(IMPC)Ccpcz HOM   E9.5 0.00
decreased lean body mass Thoc1em1(IMPC)Ccpcz HET Early adult 6.84×10-06
abnormal digit morphology Thoc1em1(IMPC)Ccpcz HET Early adult 2.70×10-05
embryonic lethality prior to tooth bud stage Thoc1em1(IMPC)Ccpcz HOM   E12.5 0.00
abnormal heart morphology Thoc1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Thoc1em1(IMPC)Ccpcz HET Early adult 0.00
increased mean corpuscular hemoglobin Thoc1em1(IMPC)Ccpcz HET Early adult 2.17×10-06
increased mean corpuscular volume Thoc1em1(IMPC)Ccpcz HET Early adult 1.09×10-08

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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 Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Thoc1 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 Thoc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 86
OMIM:620280

The table below shows human diseases predicted to be associated to Thoc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertroph... OMIM:612561
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic an... OMIM:617021
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux,... OMIM:612562
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Clubbing, Portal hypertension, Thrombocytopenia, Splenomegaly,... OMIM:620367
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Majeed Syndrome
Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr... OMIM:609628
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Reticulocytosis, Failure to thrive, Nephrocalcinosis,... OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Talipes equinovarus, Truncus arteriosus, C... OMIM:615415
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Abnormality of the upper limb, Macrocyti... ORPHA:124
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia... OMIM:617052
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Bone marrow ... ORPHA:811
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Diamond-Blackfan Anemia 1
Macrocytic anemia, Absent thumb, Congenital hypoplastic anemia, Neutropenia, Hypoplasia of the ra... OMIM:105650
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Anemia, Abnormality of t... ORPHA:464329
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepatocellular carcinoma, Anisocytosis... ORPHA:231226
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Clubbing, Flared iliac wing, Bone marrow hypocellularity, Leukopenia, Splenomega... OMIM:617303
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem... ORPHA:231222
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepat... ORPHA:231214
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Cardiomegaly, Failure to thriv... ORPHA:858
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic k... OMIM:613885
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Failure to thrive, Splenomegaly, Metaph... OMIM:269920
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Increased mean corpuscular volume, Ventricular septal defect, Thromb... ORPHA:261250
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria OMIM:277410
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Restrictive cardiomyop... ORPHA:160
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Short long bone, Pulmonic stenosis, Cardiomegaly, Right atrial ... OMIM:306955
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... OMIM:604387
Trichothiodystrophy 6, Nonphotosensitive
Coxa valga, Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cel... OMIM:256550
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma OMIM:618272
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Macrodactyly, Enlarged kidney, Abnormality of the lymphatic system, Foot polydactyly... ORPHA:276280
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid... OMIM:613091
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tibial bowing, Mitral ... ORPHA:500095
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Hepatomegaly, Anemia, Acute myeloid leukemia, Metaphyseal sclerosis... OMIM:260400
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplas... OMIM:618280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Tapered to... OMIM:608836
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly OMIM:613576
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Elevated hepatic iron concentration, Dysplastic e... ORPHA:300298
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Disloca... OMIM:300280
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Postaxial hand polydactyly, Omphalocele, M... OMIM:200995
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Camptodactyly, Decreased testicular ... ORPHA:168569
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone marrow hypocellularit... ORPHA:86839
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal renal physiology, Weight loss, Cardiomegaly, Nephropathy ORPHA:85447
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Inguinal hernia, Splenic cyst, Femoral bowing, Short ... OMIM:618188
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... OMIM:252500
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Preaxial polydactyly, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb,... OMIM:612651
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, Obesity, Macroscop... ORPHA:251004
Cantu Syndrome
Large for gestational age, Bicuspid aortic valve, Short hallux, Pericardial effusion, Metaphyseal... OMIM:239850
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... OMIM:602782
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Deep palmar crease, Patent foramen ovale, Hypertrophic cardiomyopathy, N... ORPHA:505248
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Hammertoe, Talipes equinovarus, Neph... OMIM:608022
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Clu... ORPHA:79128
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Failure to thrive, Short toe, Flexion contracture, Cryptorchidism, M... ORPHA:98791
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Hypoplasia of the ovary, Short long bone, Abnormal... ORPHA:79328
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Glomer... ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Femoral bowing, Short long bone, Hypoplasia of the thymus, Omphalocele, Cardiomeg... OMIM:617022
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec... ORPHA:97214
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Hydronep... OMIM:616897
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Ventricular septal defect, Persistence of hemoglobin F, Umbilical hernia, Atrial s... OMIM:619769
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Pericardial constriction, Enamel hypoplasia, Myoca... OMIM:253250
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intrahepatic ... ORPHA:731
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, ... OMIM:618652
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Squared iliac bones, Metaphyseal cupping, Delayed epiphyseal ossi... OMIM:613320
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cardiomegaly, Te... OMIM:235200
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple re... ORPHA:116
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Enlarged kidney, Short greater sci... OMIM:312870
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:300855
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Radial deviation of finger, Hypochromic... OMIM:301040
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619064
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mit... ORPHA:324410
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl... ORPHA:79259
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Sandal gap, Prominent fingertip pads, Short lower limbs, Abnormal heart morpholo... OMIM:615873
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Focal segm... OMIM:194080
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Failure to thrive, Pericardial effusion, Cardiomegaly, Small for ges... OMIM:614702
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Met... OMIM:250790
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cachexia, Distal arthrogryposis, Cardiomegaly, Elevated urin... ORPHA:42
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral ... OMIM:245600
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Proteus-Like Syndrome
Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic ovaries, Abnorm... ORPHA:2969
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Increased arm span, Thin metacarpal cortices, Loss of truncal subcutaneous adipose tissue, Slende... ORPHA:2463
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Cantú Syndrome
Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Abnormal heart valve morphology,... ORPHA:1517
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Hepatomegaly, Clinodactyly of the 5th finger, Multiple joint contractures, ... OMIM:618143
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Fucosidosis
Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Failure to thri... ORPHA:349
Proteus Syndrome
Macrodactyly, Enlarged kidney, Lipoma, Cachexia, Abnormal finger morphology, Upper limb asymmetry... ORPHA:744
Timothy Syndrome
Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Cardiomegaly, Ventricular septal... OMIM:601005
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyly of toe, 2-3 ... ORPHA:158687
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Short fourth metatarsal OMIM:266500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Anemia, Clinodactyly of the 5th finger, Hypoplasia of penis, Recurrent... ORPHA:847
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Congenital contracture OMIM:619036
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Flexion contracture of finger, Splenomegaly, Cardiomegaly, Elbow flex... OMIM:256040
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Decreased body weight, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, ... OMIM:608013
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr... OMIM:201475
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Decreased body weight, Hypertrophic ca... ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Failure to thrive, Splenomegaly, Flexion c... OMIM:230000
Craniofaciofrontodigital Syndrome
Large for gestational age, Cardiomegaly, Palmoplantar cutis laxa, Abnormal heart valve morphology... ORPHA:363705
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... ORPHA:228308
Long-Olsen-Distelmaier Syndrome
Failure to thrive, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricul... OMIM:620609
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Yunis-Varon Syndrome
Rocker bottom foot, Abnormal finger morphology, Cardiomyopathy, Aplasia of the 1st metacarpal, Sl... ORPHA:3472
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin... ORPHA:391428
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Ket... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Thymoma
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia, G... ORPHA:99867
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Genu valgum, Recurrent tonsillitis, Inguinal hern... ORPHA:581
Lead Poisoning
Abnormal T cell morphology, Anemia, Chronic kidney disease, Imbalanced hemoglobin synthesis, Smal... ORPHA:330015
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he... OMIM:614921
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Hip dysplasia OMIM:618798
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri... ORPHA:57777
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited elbow movement, Proximal muscle weakness in upper limbs, Distal upper limb muscle weaknes... ORPHA:268
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Umbilical ... OMIM:619991
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Short femur, Short tibia, Talipes equinovarus OMIM:620306
Bohring-Opitz Syndrome
Annular pancreas, Severe failure to thrive, Fixed elbow flexion, Cholelithiasis, Metacarpophalang... ORPHA:97297
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Reticulocytosis, Failure to thrive, Cardiomegaly, Hepatic fibros... ORPHA:14
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Failure to thri... ORPHA:1329
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly OMIM:232300
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Left ventricular hypertrophy, Cardi... ORPHA:308552
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Hammertoe, Talipes equinovarus, Splenic cyst, Patent foramen ovale, Decreased body ... OMIM:620371
Naxos Disease
Right ventricular cardiomyopathy, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, ... OMIM:601214
Alkaptonuria
Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral valve calcific... ORPHA:56
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect, S... OMIM:300967
Aicardi-Goutières Syndrome
Lipoatrophy, Panniculitis, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hype... ORPHA:51
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... ORPHA:904
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Failure to thrive, Cardiomegaly, Polycystic ovaries, Ventricular septal... ORPHA:137675
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Inguinal hernia, Abnormality of connective tissue, Arachnodactyly, Bicuspid aortic ... ORPHA:91387
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Congenital Tracheomalacia
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary ve... ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cryptorchidism, Umbilical hernia, Cardiomegaly, Ventricular septal defect ORPHA:96191
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Ca... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Ventricular hypertrophy, Medullary nephrocalcinosis, Stipple... ORPHA:51608
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Flexion contracture, Left ventricul... ORPHA:365
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Deafness, Autosomal Dominant 86
OMIM:620280

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 Thoc1

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 Thoc1.

No publications found that use IMPC mice or data for Thoc1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Thoc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Thoc1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Thoc1em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Thoc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Thoc1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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