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Gene: Thoc7 MGI:1913481

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Gene Summary

Name:
THO complex 7
Synonyms:
1500006O09Rik,  9230101K24Rik

Order Alleles

IMPC Data Collections

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 circulating bilirubin level Thoc7em1(IMPC)J HET   Early adult 6.16×10-05
preweaning lethality, complete penetrance Thoc7em1(IMPC)J HOM   Early adult 0.00
increased mean corpuscular hemoglobin concentration Thoc7em1(IMPC)J HET Early adult 5.83×10-05
embryonic lethality prior to organogenesis Thoc7em1(IMPC)J HOM   E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Thoc7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Thoc7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... OMIM:237800
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Spherocytosis, Type 2
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:616649
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Malaria
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:182900
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... OMIM:235700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increased t... OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... OMIM:224120
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Hereditary Elliptocytosis
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... ORPHA:288
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Iron deficiency anemia, Increased to... OMIM:616278
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... OMIM:185000
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... OMIM:300908
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Decreased hem... OMIM:266200
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Increased circulating ferritin concentration, Neonatal hyperbi... OMIM:618892
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... ORPHA:71275
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia ORPHA:713
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... OMIM:206200
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Biliary Atresia, Extrahepatic
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Glycogen Storage Disease Vii
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate conc... OMIM:232800
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hereditary Spherocytosis
Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio... ORPHA:822
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, H... OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... OMIM:614300
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Glycogen Storage Disease Xii
Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating creatine kinase concen... OMIM:611881
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... OMIM:613280
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Hyperbilirubinemia OMIM:301094
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... ORPHA:848
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Extramedullary hematopoiesis, Conjuga... ORPHA:79303
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Hyponatremia, Increase... OMIM:603553
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... ORPHA:1667
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia OMIM:617049
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... OMIM:259720
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Hyperbilirubinemi... OMIM:557000
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... OMIM:251880
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly OMIM:608885
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... ORPHA:90038
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Abetalipoproteinemia
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Acanthocytosis, Hyperbilirubine... ORPHA:14
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Splenomegaly OMIM:613812
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Hyperbilirubinemia, Abnormal circulating... OMIM:607330
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Increased serum p... ORPHA:3008
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Hepatocellular Carcinoma
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... ORPHA:88673
Wilson Disease
Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper concentration, Hyperbilirubi... OMIM:277900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... OMIM:608836
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Cystic Echinococcosis
Hyperbilirubinemia, Splenic cyst, Eosinophilia ORPHA:400
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Increased blood... ORPHA:447
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia ORPHA:168577
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Congenital Erythropoietic Porphyria
Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal ... ORPHA:79277
Caroli Syndrome
Leukocytosis, Leukopenia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypersplenism, Throm... ORPHA:480520
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:163979
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjugated hyperbili... ORPHA:567983
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Caroli Disease
Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Splenomegaly, Conjugated hype... ORPHA:53035
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Elevated circulating phytanic acid concentration, Increased circulating very ... OMIM:614866
Reynolds Syndrome
Hyperbilirubinemia, Lymphopenia, Calcinosis, Splenomegaly OMIM:613471
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Senior-Boichis Syndrome
Hepatosplenomegaly, Increased total bilirubin, Anemia ORPHA:84081
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Ogden Syndrome
Iron deficiency anemia, Thrombocytopenia, Polycythemia, Hyperbilirubinemia OMIM:300855
Degcags Syndrome
Hepatosplenomegaly, Leukopenia, Abnormal spleen morphology, Anemia, Hyperbilirubinemia, Pancytope... OMIM:619488
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Isolated Biliary Atresia
Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia OMIM:229600
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Splenomegaly, Polysplenia OMIM:613610
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level OMIM:218700
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto... ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hypoalbuminemia OMIM:613658
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Hardikar Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:301068
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... OMIM:617052
Lead Poisoning
Increased LDL cholesterol concentration, Anemia, Decreased HDL cholesterol concentration, Imbalan... ORPHA:330015
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... OMIM:260400
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Aplasia of the thymus OMIM:620186
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia, Increased circu... OMIM:619534
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:243800

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 Thoc7

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 Thoc7.

No publications found that use IMPC mice or data for Thoc7.

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
Thoc7em1(IMPC)J Exon Deletion Mice
Thoc7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Thoc7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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