Gene Summary

Name:
histocompatibility 2, T region locus 24
Synonyms:
H-2T24

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
increased leukocyte cell number H2-T24em1(IMPC)Wtsi HOM Early adult 5.94×10-05
increased circulating bilirubin level H2-T24em1(IMPC)Wtsi HOM Early adult 1.07×10-05
decreased circulating total protein level H2-T24em1(IMPC)Wtsi HOM Early adult 9.74×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Legacy Phenotype Associated Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
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
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp... OMIM:237800
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Hyperbilirubinemi... OMIM:601775
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Conjugated hyperbiliru... OMIM:620010
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Iron deficiency anemia, Increased serum bile acid concentr... OMIM:616278
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Harderoporphyria
Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen... OMIM:618892
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti... OMIM:266200
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Spleno... OMIM:615895
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... ORPHA:64743
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Extramedullary hematopoiesis, Abnormal serum bile acid concentration, Conjuga... ORPHA:79303
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb... ORPHA:822
Glycogen Storage Disease Xii
Normocytic anemia, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bisphosphate ald... OMIM:611881
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Liver Disease, Severe Congenital
Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Cystic Echinococcosis
Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Multiple Myeloma
Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration ORPHA:29073
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Caroli Syndrome
Liver abscess, Hyperbilirubinemia, Leukocytosis, Leukopenia, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Splenomegaly OMIM:613812
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubinemia, Abnorma... ORPHA:14
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Lathosterolosis
Anisopoikilocytosis, Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirub... OMIM:607330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid... OMIM:557000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:608885
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Poikilo... OMIM:618278
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Eos... ORPHA:2070
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Pierson Syndrome
Hypoproteinemia OMIM:609049
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
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis OMIM:618042
Caroli Disease
Liver abscess, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid conc... ORPHA:567983
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis, Splenomegaly, Lymphopenia OMIM:613471
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, U... ORPHA:79277
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... OMIM:277900
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises ORPHA:168577
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Juvenile Polyposis Syndrome
Hypoproteinemia, Anemia, Brain abscess ORPHA:2929
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Increased ... OMIM:620376
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Yellow Fever
Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophili... ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Isolated Biliary Atresia
Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly, Anemia ORPHA:84081
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Degcags Syndrome
Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Leu... OMIM:619488
Ogden Syndrome
Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia OMIM:300855
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Splenomegaly, Polysplenia OMIM:613610
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Hardikar Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism OMIM:301068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration 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 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-T24em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) H2-T24em1(IMPC)Wtsi PMC6671969

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
H2-T24em1(IMPC)Wtsi Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter