Gene Summary

Name:
aminolevulinate, delta-, dehydratase
Synonyms:
Lv

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
embryonic lethality prior to organogenesis Aladem1(IMPC)Tcp HOM   E9.5 0.00
small adrenal glands Aladem1(IMPC)Tcp HET Early adult 0.00
enlarged lymph nodes Aladem1(IMPC)Tcp HET Late adult 0.00
abnormal liver morphology Aladem1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, complete penetrance Aladem1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Aladem1(IMPC)Tcp HET Late adult 0.00
abnormal seminal vesicle morphology Aladem1(IMPC)Tcp HET Late adult 0.00
decreased grip strength Aladem1(IMPC)Tcp HET Middle aged adult 1.27×10-06
increased circulating triglyceride level Aladem1(IMPC)Tcp HET   Early adult 1.05×10-05
abnormal sternum morphology Aladem1(IMPC)Tcp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Aladem1(IMPC)Tcp HOM   E15.5 0.00
enlarged thymus Aladem1(IMPC)Tcp HET Early adult 0.00
decreased red blood cell distribution width Aladem1(IMPC)Tcp HET Late adult 5.59×10-06
enlarged urinary bladder Aladem1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Aladem1(IMPC)Tcp HET Late adult 0.00

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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.

Histopathology

Images

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

147 Images

Eye Morphology

Images Slit Lamp

58 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

3 Images

Gross Pathology and Tissue Collection

Images

9 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Human diseases caused by Alad mutations

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

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

The table below shows human diseases associated to Alad by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Hemolytic anemia OMIM:612740
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Myeloproliferative disorder, Abnormal erythrocyte enzyme concentration or activity,... ORPHA:100924

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly OMIM:232700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Sea-blue histiocytos... OMIM:607616
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Adrenal calcification, Hypercholesterolemia ORPHA:75234
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, ... OMIM:603552
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus OMIM:610947
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R... OMIM:224120
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Diabetes mell... OMIM:612526
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:613101
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypothyroidism, Arachnodactyly, Hepatosplenomegaly, Hypopituitarism, Hypoal... OMIM:619013
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... ORPHA:404
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Increased serum leptin OMIM:617885
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy... OMIM:613677
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Decreased ... OMIM:615238
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypothyroidism, Dif... OMIM:617575
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia,... OMIM:278000
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Decreased testicular size, Precocious... OMIM:616222
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Polycyst... ORPHA:79085
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... OMIM:267700
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp... OMIM:602450
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Anemia, Increased mean corpuscular volum... ORPHA:98870
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper... ORPHA:251274
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Orotic Aciduria
Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol respons... OMIM:201810
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,... OMIM:619802
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal lymph no... ORPHA:54251
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica... OMIM:604273
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Polycyst... ORPHA:435651
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Organic aciduria, Poikilocytosis, Sid... OMIM:301310
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased circulatin... OMIM:615947
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Reduced renal corticomed... OMIM:603278
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Elevated circulating creatine kinase ... ORPHA:435660
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hy... OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypo... OMIM:603553
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating androstenedione concentration, Penoscrota... ORPHA:90791
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fus... ORPHA:95699
Smith-Magenis Syndrome
Hypertriglyceridemia, Short palm, Abnormality of the thyroid gland, Brachydactyly, Hypercholester... OMIM:182290
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger OMIM:618010
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly ORPHA:363400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Male hypogonadism, Cryptorchidism, Diabetes mellitus OMIM:615381
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal phalang... ORPHA:2457
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato... ORPHA:247585
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Maternal diabetes, Hyperuricemia, Splenomegaly, Polycystic ov... ORPHA:79083
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Precocious puberty in females, Increased C-... ORPHA:528
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalci... ORPHA:2088
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Clinodactyly of the 5th finger, Abnormality of the ureter,... ORPHA:819
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Slender long bone, Congenital adrenal hyperplasia, Thrombocyt... ORPHA:96181
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hyperaldosteronism ORPHA:369929
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Nephr... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ... OMIM:202010
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp... OMIM:617591
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Abnormal renal phy... ORPHA:540
Seckel Syndrome 10
Hypertriglyceridemia, Slender long bone, Glycosuria, Metaphyseal widening, Elevated circulating f... OMIM:617253
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Polycystic ovaries, Diabetes mellitus ORPHA:2348
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Radial deviation ... OMIM:176270
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Primary adrenal insuffi... ORPHA:261476
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ... ORPHA:209902
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Argininuria, Decrease... ORPHA:470
H Syndrome
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Lymphadenopathy, Camptodactyly, Decreased... ORPHA:168569
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ... ORPHA:90790
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Type II diab... OMIM:615812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatomegaly, Anemia, Renal tubular acidosis, Myoglobinuri... ORPHA:264580
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatomegaly, Anemia, Renal tubular acidosis, Myoglobinuria, Elevated circu... ORPHA:79240
Griscelli Syndrome Type 2
Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neut... ORPHA:79477
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Adrenal hyperplasia, Precocious pub... ORPHA:786
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H... OMIM:618183
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Renal salt wasting, Anemia, Vacuola... ORPHA:275761
Alstrom Syndrome
Polydactyly, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreas... OMIM:203800
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid... OMIM:256300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Osteolytic defects o... ORPHA:280365
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hepatomegaly, Hyperinsulinemia, P... ORPHA:79086
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia, Hypospadias, Decreased testicular size OMIM:610644
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosple... ORPHA:444490
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Glycogen Storage Disease Iii
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatomegaly, Anemia, Delayed puberty, Hyperu... ORPHA:79259
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Hammertoe, Sandal gap, Hallux valgus, Shoulder dislocation, Arachnodactyly,... ORPHA:536532
Microtriplication 11Q24.1
Genu valgum, Clinodactyly of the 5th finger, Hyperlipidemia, Metatarsus adductus, Short foot, Sma... ORPHA:289522
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating creatine kinase concen... OMIM:613327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Diabetes mellitus, Hyperlipidemia, Elevated circulating... OMIM:615980
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperinsulinemia, Ty... OMIM:151660
Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hepatomegaly, Hyperlipidemia, Proteinuria ORPHA:369
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Congenital megaureter, Slender long bone, Upper limb un... ORPHA:369837
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:610717
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Thromboc... ORPHA:31150
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal granulocyte morphology, Abnormal circulating creatine kinase conce... ORPHA:98907
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H... OMIM:256040
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Genu valgum, Osteolytic defects of the phalanges of the hand, Hepatomegaly,... OMIM:619127
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Increased urinary glycerol, Adrenocortical hypoplasia, C... OMIM:307030
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Anemia, Abnormal proportion of naive CD4 T cells, Minimal chan... ORPHA:1830
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis OMIM:611812
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Hepatomegaly, Hyperlipidemia, Splenomegaly ORPHA:1414
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Reticulocytosis,... ORPHA:79277
19P13.12 Microdeletion Syndrome
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Finger syndactyly, Hyperlipidemia, Toe c... ORPHA:254346
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Alagille Syndrome 1
Hypertriglyceridemia, Hypoplasia of the ulna, Renal tubular acidosis, Vesicoureteral reflux, Rena... OMIM:118450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Poly... OMIM:619418
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Decreased serum leptin, Nephrolithiasis, Sp... OMIM:608594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Decreased serum leptin, Nephrolithiasis, Sp... OMIM:269700
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Abnormal circulating creatine kinase concentration, Diabetes ... ORPHA:98908
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Hypoplasia of... ORPHA:110
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Upper limb undergrowth, Postaxial hand p... OMIM:236680
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive ... OMIM:619573
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Hyperlipidemia, Ketonuria ORPHA:2089
Cushing Disease
Increased circulating ACTH level, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corti... ORPHA:96253
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperl... OMIM:608612
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Renal insufficiency, Myog... ORPHA:228308
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal pha... OMIM:248370
Tetraamelia Syndrome 1
Adrenal gland agenesis, Urethral atresia, Asplenia, Hypoplastic pelvis OMIM:273395
Atypical Werner Syndrome
Rocker bottom foot, Hypertriglyceridemia, Delayed puberty, Hyperinsulinemia, Osteolytic defects o... ORPHA:79474
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ... ORPHA:99889
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of the 5th finger, 11 pairs of r... ORPHA:79500
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Increased serum testosterone level, Slender long bone, Long pe... OMIM:264090
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly OMIM:619036
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Cholelithiasis, Hyperlipidemia, Biliary hyperplasia, Splenomegaly, Conjugated hyper... ORPHA:567983
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Pulmonary carcinoid tumor ORPHA:363618
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Hyperlipidemia, Proteinuria, Chronic kid... ORPHA:439232
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Short humerus, Long toe, Decreased response to growth hormone stimulation t... ORPHA:3455
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidem... ORPHA:90154
Aromatase Deficiency
Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hyperlipidemia, Enlar... ORPHA:91
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Hype... OMIM:232240
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Acroosteo... ORPHA:90153
Craniorachischisis
Bifid sternum ORPHA:63260
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Familial Multiple Lipomatosis
Hyperlipidemia, Bowing of the long bones ORPHA:199276
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine kinase concen... ORPHA:565612
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Type I diabetes mellitus, Hypercholesterolemia OMIM:606721
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic... OMIM:241080
Proteus Syndrome
Macrodactyly, Enlarged kidney, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Ov... ORPHA:744
Fabry Disease
Abnormal circulating lipid concentration, Delayed puberty, Abnormal femur morphology, Hematuria, ... ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Alström Syndrome
Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism... ORPHA:64
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Drum... OMIM:303600
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Hemolytic anemia OMIM:612740
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Renal artery stenosis ORPHA:391665
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Myeloproliferative disorder, Abnormal erythrocyte enzyme concentration or activity,... ORPHA:100924

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 Alad

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 Alad.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Aladtm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aladtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aladtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aladtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Aladem1(IMPC)Tcp Exon Deletion Mice, Tissue

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