Gene Summary

Name:
integrator complex subunit 6 like
Synonyms:
4930535D10Rik,  6330505F04Rik,  Ddx26b

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 circulating triglyceride level Ints6lem1(IMPC)Marc HEM   Early adult 9.65×10-05
decreased exploration in new environment Ints6lem1(IMPC)Marc HEM   Early adult 1.80×10-05
increased circulating triglyceride level Ints6lem1(IMPC)Marc HOM   Early adult 5.31×10-06
decreased circulating phosphate level Ints6lem1(IMPC)Marc HEM   Early adult 7.09×10-05
decreased red blood cell distribution width Ints6lem1(IMPC)Marc HOM   Early adult 3.35×10-05
dilated heart left ventricle Ints6lem1(IMPC)Marc HEM   Early adult 7.56×10-09
thin ventricular wall Ints6lem1(IMPC)Marc HEM   Early adult 1.90×10-08
decreased heart left ventricle size Ints6lem1(IMPC)Marc HOM   Early adult 8.58×10-06
decreased red blood cell distribution width Ints6lem1(IMPC)Marc HEM   Early adult 1.33×10-05
decreased heart left ventricle size Ints6lem1(IMPC)Marc HEM   Early adult 4.42×10-08
decreased circulating phosphate level Ints6lem1(IMPC)Marc HOM   Early adult 6.80×10-06
decreased cardiac muscle contractility Ints6lem1(IMPC)Marc HEM   Early adult 3.97×10-07

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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.

Phenotype associated images not available

Human diseases caused by Ints6l 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 Ints6l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... OMIM:610947
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... OMIM:615703
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hypertriglyceridemia OMIM:610717
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Hypertriglyceridemia OMIM:618010
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hypertriglyceridemia OMIM:615924
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Colchicine Poisoning
Myocarditis, Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypoma... ORPHA:31824
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancytopenia, A... OMIM:300635
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Orotic Aciduria
Ventricular septal defect, Hypochromia, Anisocytosis, Atrial septal defect, Poikilocytosis, Pyrim... OMIM:258900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Increased ci... ORPHA:158057
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia ORPHA:2611
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Fanconi Renotubular Syndrome 5
Hypertension, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia ORPHA:71529
Lcat Deficiency
Hemolytic anemia, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholestero... ORPHA:650
Rh Deficiency Syndrome
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Hyperphosphatemia, Polyuria, And Seizures
Irritability, Hyperphosphatemia OMIM:239350
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Ventricular arrhythmia, Irrita... ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Smith-Magenis Syndrome
Abnormal heart morphology, Self-mutilation, Hypercholesterolemia, Hypertriglyceridemia, Head-banging OMIM:182290
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Right ventricular dilatation, Atrial fibrilla... ORPHA:217607
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persisten... ORPHA:231226
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Anemia, Hypophosphatemia, Splenomegaly OMIM:239200
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia,... OMIM:145600
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:280356
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hypertension, Hypertriglyceridemia ORPHA:363400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Anisocytosis, Irritability, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... OMIM:618278
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Eleva... ORPHA:98855
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Orthostatic hypotension OMIM:606721
Cystinosis
Portal hypertension, Hypophosphatemia, Hypokalemia ORPHA:213
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hypertriglyceridemia OMIM:608600
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:261
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Ventricular hypertrophy, Cardiomyopathy, Hype... OMIM:232400
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Pearson Syndrome
Neutropenia, Hypokalemia, Cardiac conduction abnormality, Abnormal heart morphology, Anemia, Card... ORPHA:699
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Increased red blood cell count... ORPHA:90041
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Irritability, Hypocalcemia, An... ORPHA:94089
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98863
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Abnormal heart morphology, Cardiomyopathy, Ve... ORPHA:370
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbum... OMIM:618183
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hypercholesterolemia, Congestive heart failure, Hypertriglyceridemia... ORPHA:528
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Nephrotic Syndrome, Type 14
Mental deterioration, Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Familial Chylomicronemia Syndrome
Dementia, Hyperlipidemia, Memory impairment, Hepatosplenomegaly, Hypertriglyceridemia, Pulmonary ... ORPHA:444490
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Anemia, Left ventricular hypertrophy, Hepatospleno... ORPHA:31150
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachyc... ORPHA:423
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Hyperuricemia, Splenomegaly, Hypertriglyceridemia, Con... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Congestive heart failure, Hypertriglyceridemia, Splenomegaly ORPHA:2348
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... ORPHA:167
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypertension, Hypernatremia, Elevated c... ORPHA:94093
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Emotional lability, Decreased proportion of... ORPHA:179494
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary e... ORPHA:567548
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... ORPHA:363618
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Irritability, Hyperlipidemia ORPHA:369
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Anemia, Cardiomyopathy, Splenomegaly, Hyperch... ORPHA:264580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Cognitive impairment, Hyperlipidemia, Hyperuricemia ORPHA:364
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Elevated circulating C... OMIM:619573
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia, Abnormal p... ORPHA:667
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Cognitive impairment, Pulmonary arterial hype... ORPHA:275761
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly OMIM:613027
Infantile Nephropathic Cystinosis
Cognitive impairment, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Alport Syndrome 3, Autosomal Dominant
Hypertension, Azotemia, Hypophosphatemia OMIM:104200
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Cardiomyopathy, Abnormal granulocyte morpholo... ORPHA:98907
Mccune-Albright Syndrome
Pancytopenia, Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia ORPHA:562
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Decreased HDL cholesterol concentration, Hyperuricemia, Hyp... OMIM:203800
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Emotional lability, Congestive heart failure, Hypocalcemia, Anxiety, Arrhythmia, ... ORPHA:428
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... ORPHA:79102
Opsismodysplasia
Hypophosphatemia OMIM:258480
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Pseudohypoparathyroidism, Type Ia
Cognitive impairment, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circula... OMIM:235400
Acquired Generalized Lipodystrophy
Hypertension, Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular s... ORPHA:79086
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Dent Disease 1
Hypophosphatemia OMIM:300009
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets OMIM:614473
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia OMIM:617591
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hypertriglyceridemia OMIM:615381
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal cardiac ventricular function, Hyperten... ORPHA:439232
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Seckel Syndrome 10
Hypertension, Ventricular hypertrophy, Congestive heart failure, Elevated hemoglobin A1c, Hypertr... OMIM:617253
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positive helper... ORPHA:66628
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Decreased HDL cholesterol concentration, Ventricular arrhythmia, Spl... ORPHA:280365
Smith-Magenis Syndrome
Hypercholesterolemia, Self-injurious behavior, Anxiety, Hypertriglyceridemia ORPHA:819
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, Transient hyper... OMIM:255120
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia ORPHA:249
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H... ORPHA:79240
Raine Syndrome
Hypophosphatemia OMIM:259775
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, T... OMIM:613327
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Self-injurious behavior, Anemia, Hypophosphatemia, Hypercholesterolemi... ORPHA:534
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Myocarditis, Increased T cell count, Splenomegaly, Abs... ORPHA:2442
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Transient hyperlipidemia, Arrhythmia, Sudden cardiac death ORPHA:156
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval ORPHA:99880
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Gastrointestinal hemorrhage... OMIM:229600
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Hypertension, Intracranial hemorrhage, Shock, Palpitations, Subconjun... ORPHA:340
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval ORPHA:143
Griscelli Syndrome Type 2
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
H Syndrome
Facial telangiectasia, Hepatosplenomegaly, Microcytic anemia, Abnormal cardiovascular system phys... ORPHA:168569
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Abnormal heart morphology, Restrictive cardiomyopathy, Atrial septal defect, Hyper... ORPHA:369837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hypertension, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cogniti... ORPHA:79259
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Irritability, Hypo... ORPHA:79444
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Cognitive impairment, Hyperphosphatemia ORPHA:457059
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... ORPHA:77293
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Hyperlipidemia, Permanent atrial fibr... ORPHA:31825
Fabry Disease
Hyperlipidemia, Achalasia, Transient ischemic attack, Anxiety, Hypertrophic cardiomyopathy, Hyper... ORPHA:324
Primary Lipodystrophy
Hypertension, Hyperlipidemia, Cardiomyopathy, Splenomegaly, Congestive heart failure, Angina pect... ORPHA:90970
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Anemia, Splenomegaly, Accessory spleen, Hypertriglyceridemia, Polysplenia OMIM:619418
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Sp... ORPHA:79277
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Hyperlipidemia, Elevated circulating creatine kinase concentration, Vac... ORPHA:565612
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Pseudohypoparathyroidism Type 1A
Hypertension, Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Irri... ORPHA:79443
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen... ORPHA:466650
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Mitral regurgitation, Hyperlipidemia, Self-injurious behavior, Aortic ... ORPHA:254346
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Mitral regurgitation, Tricuspid regurgitation, Left ventricular hyper... OMIM:619127
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Hyperlipidemia ORPHA:2089
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion, Hypertriglyceridemia ORPHA:536532
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Neutral Lipid Storage Myopathy
Congestive heart failure, Abnormal circulating creatine kinase concentration, Cardiomyopathy, Hyp... ORPHA:98908
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Cardiomegaly, Splenomegaly, Microcytic anemia, Hypertrig... OMIM:256040
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertriglyceridemia, Splenomegaly OMIM:269700
Primary Pigmented Nodular Adrenocortical Disease
Cardiac myxoma, Hypertension, Hyperlipidemia, Increased circulating cortisol level, Cognitive imp... ORPHA:189439
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Hyperlipidemia, Splenomegaly ORPHA:1414
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Hyperlipidemia, Joint hemorrhage, Epistaxis, Hyperuricemia, Gastrointest... ORPHA:35909
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Hypertriglyceridemia, Splenomegaly OMIM:608594
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Hyperlipidemia, Pulmonary a... ORPHA:1830
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Alagille Syndrome 1
Ventricular septal defect, Hypercholesterolemia, Atrial septal defect, Tetralogy of Fallot, Hyper... OMIM:118450
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Hyperlipidemia, Increased circulating cortisol level, Cognitive impairment, Paradox... ORPHA:189427
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:157
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology, Hyperlipidemia ORPHA:199276
Atypical Werner Syndrome
Hypertension, Mitral valve prolapse, Telangiectasia of the skin, Hypertriglyceridemia, Congestive... ORPHA:79474
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Hyperlipidemia, Mitral regurgitation, Increased LDL cholester... ORPHA:391665
Glycogen Storage Disease Ib
Hypertension, Neutropenia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232220
Wiedemann-Rautenstrauch Syndrome
Dysplastic pulmonary valve, Congenital malformation of the left heart, Hypertriglyceridemia, Pulm... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia OMIM:264090
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjugated hyperbili... ORPHA:567983
Glycogen Storage Disease Ia
Xanthelasma, Hypertension, Hyperlipidemia, Hyperuricemia OMIM:232200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Glycogen Storage Disease Ic
Spider hemangioma, Hypertension, Hyperlipidemia, Pulmonary arterial hypertension, Hyperuricemia, ... OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia OMIM:248370
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Hyperlipidemia, Cognitive impairment, Pulmonary arterial hy... ORPHA:64
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Self-injurious behavior, Aggressive behavior, Emotional lability ORPHA:293987
Mosaic Monosomy X
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Hyperlipidemia, Myocardial infarction... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Hyperlipidemia, Myocardial infarction... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Hyperlipidemia, Myocardial infarction... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Hypertension, Prolonged QT interval, Hyperlipidemia, Myocardial infarction... ORPHA:99413
Woodhouse-Sakati Syndrome
Mental deterioration, Abnormal T-wave, Hyperlipidemia ORPHA:3464
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia OMIM:241080

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 Ints6l

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 Ints6l.

No publications found that use IMPC mice or data for Ints6l.

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MGI Allele Allele Type Produced
Ints6ltm41150(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ints6lem1(IMPC)Marc Indel Mice
Ints6ltm352029(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ints6ltm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ints6ltm3e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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