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Gene: H2-T24 MGI:95958

Gene Summary

Name:

histocompatibility 2, T region locus 24

Synonyms:

H-2T24

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating total protein level	H2-T24^{em1(IMPC)Wtsi}	HOM	Early adult	9.74×10^-05
increased circulating bilirubin level	H2-T24^{em1(IMPC)Wtsi}	HOM	Early adult	1.07×10^-05
increased leukocyte cell number	H2-T24^{em1(IMPC)Wtsi}	HOM	Early adult	5.94×10^-05

Download data as: TSV XLS

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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.

Legacy Phenotype Associated Images

H2-T24^{em1(IMPC)Wtsi}
head, HOM, Female, WTSI

Human diseases caused by H2-T24 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.

Human diseases associated with H2-T24 (0 diseases)
Human diseases predicted to be associated with H2-T24 (203 diseases)

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

The table below shows human diseases predicted to be associated to H2-T24 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
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
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple...	OMIM:237800
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:619398
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11	Increased serum bile acid concentration, Abnormal circulating bilirubin concentration	OMIM:619874
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis	OMIM:301083
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir...	OMIM:601775
Malaria	Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia	ORPHA:673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbiliru...	OMIM:620010
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci...	OMIM:241600
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Spherocytosis, Type 4	Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase...	OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom...	OMIM:619868
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Spherocytosis, Type 2	Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop...	OMIM:616689
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Refractory Celiac Disease	Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ...	ORPHA:398063
Spherocytosis, Type 1	Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:182900
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly	OMIM:185000
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis	OMIM:268150
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul...	OMIM:603553
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome...	OMIM:235700
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E...	OMIM:603554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi...	ORPHA:158057
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi...	OMIM:300908
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio...	OMIM:616278
Dengue Fever	Leukopenia, Thrombocytopenia, Hypoproteinemia	ORPHA:99828
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas...	ORPHA:90362
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Sickle Cell Anemia	Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt...	ORPHA:232
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co...	OMIM:618892
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi...	OMIM:232800
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr...	OMIM:605814
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia	OMIM:226300
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly...	ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re...	OMIM:613673
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy...	OMIM:618963
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi...	OMIM:266200
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth...	ORPHA:98870
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Biliary Atresia, Extrahepatic	Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia	OMIM:210500
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H...	ORPHA:247585
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Conjugated hyperbilirubinemia	OMIM:243300
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth...	OMIM:224120
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia...	ORPHA:288
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Elevated circulating creatine kinase concentration, Hypoproteinemia, Leukocytosis, Spleno...	OMIM:615895
Rh Deficiency Syndrome	Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,...	ORPHA:71275
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot...	ORPHA:91547
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Chédiak-Higashi Syndrome	Splenomegaly, Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferrit...	ORPHA:167
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia	OMIM:616299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan...	ORPHA:158048
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin	OMIM:618528
Johanson-Blizzard Syndrome	Anemia, Hypoproteinemia	ORPHA:2315
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:269920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Splenomegaly	OMIM:235255
Hepatoportal Sclerosis	Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi...	ORPHA:64743
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Splenomegaly	OMIM:235555
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly	ORPHA:1655
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy...	OMIM:613280
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Wolcott-Rallison Syndrome	Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope...	ORPHA:1667
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia	ORPHA:95715
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Congenital Bile Acid Synthesis Defect Type 2	Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Extram...	ORPHA:79303
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Hyperb...	ORPHA:822
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration	OMIM:614300
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Autoimmune hemolytic anemia	ORPHA:90036
Glycogen Storage Disease Xii	Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr...	OMIM:611881
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 2	Splenomegaly, Conjugated hyperbilirubinemia	OMIM:601847
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 1	Splenomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Liver Disease, Severe Congenital	Leukopenia, Anemia, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Lym...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen...	OMIM:251880
Osteopetrosis, Autosomal Recessive 5	Anemia, Hyperbilirubinemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Thro...	OMIM:259720
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun...	ORPHA:90041
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu...	OMIM:617156
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:607765
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Cystic Echinococcosis	Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Eosinophilia, Abscess	ORPHA:400
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration	OMIM:614886
Fumarase Deficiency	Hyperbilirubinemia, Polycythemia	OMIM:606812
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Splenomegaly	OMIM:613812
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,...	ORPHA:90038
Caroli Syndrome	Leukopenia, Liver abscess, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Con...	ORPHA:480520
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Multiple Myeloma	Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly	ORPHA:29073
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane...	OMIM:557000
Abetalipoproteinemia	Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo...	ORPHA:14
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Hepatocellular Carcinoma	Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, Thrombocytos...	ORPHA:88673
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol...	ORPHA:86839
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty...	OMIM:608836
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom...	OMIM:618278
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ...	ORPHA:3008
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:676
Graft Versus Host Disease	Hyperbilirubinemia, Hemophagocytosis, Hepatosplenomegaly	ORPHA:39812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Conjugated hyperbilirubinemia	OMIM:208085
Caroli Disease	Liver abscess, Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Splenomegaly, ...	ORPHA:53035
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:608885
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Wilson Disease	Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin...	OMIM:277900
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis	OMIM:618042
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Lathosterolosis	Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopoikilocytosis, Hepatosp...	OMIM:607330
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,...	ORPHA:447
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Autoimmune Hepatitis	Increased total bilirubin, Splenomegaly	ORPHA:2137
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an...	ORPHA:79277
Reynolds Syndrome	Hyperbilirubinemia, Splenomegaly, Lymphopenia, Calcinosis	OMIM:613471
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili...	ORPHA:567983
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly	ORPHA:168577
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Psoriasis 14, Pustular	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:614204
Juvenile Polyposis Syndrome	Brain abscess, Anemia, Hypoproteinemia	ORPHA:2929
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia, Anemia	ORPHA:163979
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia	ORPHA:186
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Yellow Fever	Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi...	ORPHA:99829
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating phytanic acid concentration, Increased circulating very long-chain fatty aci...	OMIM:614866
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Isolated Biliary Atresia	Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:30391
Fructose Intolerance, Hereditary	Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia	OMIM:229600
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Hepatosplenomegaly	ORPHA:84081
Degcags Syndrome	Leukopenia, Anemia, Hyperbilirubinemia, Abnormal spleen morphology, Pancytopenia, Hepatosplenomeg...	OMIM:619488
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Ogden Syndrome	Iron deficiency anemia, Hyperbilirubinemia, Thrombocytopenia, Polycythemia	OMIM:300855
Cranioectodermal Dysplasia 2	Hyperbilirubinemia, Polysplenia, Splenomegaly	OMIM:613610
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia	OMIM:613658
Hardikar Syndrome	Hypersplenism, Hyperbilirubinemia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly	OMIM:301068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ...	OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896

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 H2-T24

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 H2-T24.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	H2-T24^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	H2-T24^{em1(IMPC)Wtsi}	PMC6671969

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MGI Allele	Allele Type	Produced
H2-T24^{em1(IMPC)Wtsi}	Deletion	Mice

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