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

Eye Morphology

Images Ophthalmoscopy

147 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

58 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Histopathology

Images

3 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 Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, In... ORPHA:100924
Porphyria, Acute Hepatic
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:612740

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias, Renal salt wasting OMIM:201710
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:614480
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Hypertriglyceridemia, Renal insufficiency, Normochromic anemia, De... OMIM:245900
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Hypertriglyceridemia OMIM:618010
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutr... OMIM:603552
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertr... OMIM:615703
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Adrenal hyperplasia OMIM:103900
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Diabetes mell... OMIM:612526
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly, Hypertriglyc... OMIM:610717
Temple Syndrome
Clinodactyly, Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Small hand, Maturity-on... OMIM:616222
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Hypothyroidism, Adrenal insufficiency, Nephrotic syndrome, Proteinur... OMIM:617575
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Glycerol Kinase Deficiency
Adrenal insufficiency, Cryptorchidism, Increased urinary glycerol, Adrenocortical hypoplasia, Hyp... OMIM:307030
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Insulin-resistant diabetes mellitus, Decreased ... ORPHA:79085
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, Insulin-resista... ORPHA:280356
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting, Hypospadias OMIM:201910
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Arachnodactyly, Hypoalbum... OMIM:619013
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Acute kidney injury, Proteinuria, Decrease... ORPHA:650
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretor... ORPHA:404
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Hepatomegaly, Decreased adiponectin level, Hype... OMIM:615238
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Hypercalciuria, Polyuria, Decreased circulating renin level, Hy... OMIM:613677
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, Secretor... ORPHA:403
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased proportion of CD4-positiv... ORPHA:66628
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Anemia, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segme... OMIM:603278
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepato... OMIM:278000
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased proportion of CD4-positiv... ORPHA:179494
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Insulin-resistant diabetes mellitus, Decreased ... ORPHA:435651
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyper... ORPHA:251274
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Decreased adiponectin level, Elevated circulati... ORPHA:435660
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypercholesterolemia, Proteinuria, Abnormal circulating lipid concen... ORPHA:567548
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Type II diabetes mellitus, Hype... OMIM:618620
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Polycystic ovaries, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Glycogen Storage Disease Ixc
Bile duct proliferation, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:613027
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Adrenal hyperplasia, Decreased circul... OMIM:219080
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovari... ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Macronodular adrenal hyperpla... OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Primary hypercortis... OMIM:615830
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231580
Smith-Magenis Syndrome
Brachydactyly, Short palm, Hypercholesterolemia, Abnormality of the thyroid gland, Hypertriglycer... OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hypogonadism OMIM:615381
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Congenital Generalized Lipodystrophy
Increased C-peptide level, Precocious puberty in females, Polycystic ovaries, Hypercholesterolemi... ORPHA:528
Fanconi-Bickel Syndrome
Bowing of the long bones, Glycosuria, Renal tubular acidosis, Nephrocalcinosis, Generalized amino... ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Nephrolithiasis, Testicular neoplasm, Increased urinary cortisol level, Paradoxic... ORPHA:189439
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Hyponatr... ORPHA:90791
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nephritis, Hepatomegaly,... OMIM:203800
Mandibuloacral Dysplasia
Hyperinsulinemia, Hypercholesterolemia, Osteolytic defects of the distal phalanges of the hand, I... ORPHA:2457
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Enuresis, Hepa... ORPHA:247585
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone... ORPHA:95699
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hypertriglyceridemia, Hy... OMIM:603471
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Nephrolithiasis, Macronodular adrenal hyperplasia, Abnormal response to corticotr... ORPHA:189427
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Splenomegaly, Hepatomegaly, Hyperuricemia, Insulin-resistant diabetes mellitu... ORPHA:79083
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Adrenal hyperplasia, Nephrolithiasis, Hyperaldosteronism, Abnormal circulating renin ORPHA:369929
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:214900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Adrenogenital syndrome, Increas... OMIM:202010
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutr... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Lymphadenopathy, Hypertriglyceridemia, Lymp... OMIM:617591
Dysbetalipoproteinemia
Hypothyroidism, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Diabetes mellitus, Hypertriglyce... ORPHA:412
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Micropenis, Adrenal hyperplasia, Premature pubarche, Hypospadias OMIM:201810
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Splenomegaly, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia ORPHA:2348
Smith-Magenis Syndrome
Brachydactyly, Toe syndactyly, Hypothyroidism, Abnormality of the ureter, Hypercholesterolemia, C... ORPHA:819
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Elevated cir... ORPHA:261476
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Lymphadenopath... ORPHA:168569
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... ORPHA:209902
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Myoglobinuria, He... ORPHA:370
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Slender long bone, Hydrocele ... ORPHA:96181
Seckel Syndrome 10
Glycosuria, Slender long bone, Elevated circulating luteinizing hormone level, Cone-shaped epiphy... OMIM:617253
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Myoglobinuria, He... ORPHA:264580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Abnormal circulating androgen l... ORPHA:90790
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Myoglobinuria, He... ORPHA:79240
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Cryptorchidism, Hypocalcemia, Polyuria, Hypoalbuminemia, Hypertrigl... OMIM:618183
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Anemia, Membranous nephropathy, Decreased response to growth hormone... ORPHA:470
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal ... ORPHA:786
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Splenomegaly, Hepatomegaly, Decreased adiponectin level, Osteolytic defects o... ORPHA:280365
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Diabetes mel... ORPHA:444490
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercho... ORPHA:275761
Acquired Generalized Lipodystrophy
Polycystic ovaries, Proteinuria, Hyperinsulinemia, Abnormal circulating lipid concentration, Hepa... ORPHA:79086
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypospadias, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Glomerular sclerosi... OMIM:256300
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphade... ORPHA:79477
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration,... OMIM:613327
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Hammertoe, Equinus calcaneus, Sandal gap, Cryptorchidis... ORPHA:536532
Gaisböck Syndrome
Nephrocalcinosis, Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, ... ORPHA:90041
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Hyperlipidemia, Nephrolithiasis, Polycystic ovaries, Hyperchol... ORPHA:79259
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hypercholesterolemia, Hyperinsulinemia, Hepatomegaly, Insulin-resistant diabe... OMIM:151660
Microtriplication 11Q24.1
Hyperlipidemia, Clinodactyly of the 5th finger, Metatarsus adductus, Small hand, Genu valgum, Sho... ORPHA:289522
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hepatomegaly OMIM:232400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Upper limb undergrowth, Hypoparathyr... ORPHA:369837
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepato... ORPHA:167
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Tangier Disease
Hepatosplenomegaly, Anemia, Chronic noninfectious lymphadenopathy, Hypertriglyceridemia, Hypochol... ORPHA:31150
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... OMIM:615980
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Aplastic anemia... ORPHA:2442
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Cardiomegaly, Parotitis, Hypoplastic scapulae, Elevated circulating C-reactive... OMIM:256040
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hyperlipidemia, Hepatomegaly, Proteinuria ORPHA:369
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid concentration, Autoim... ORPHA:77293
Mandibuloacral Dysplasia Progeroid Syndrome
Supernumerary ribs, Left ventricular hypertrophy, Short femoral neck, Proteinuria, Sandal gap, Dy... OMIM:619127
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Hypertriglyceridemia, Hepatomegaly, Abnormal circulating creatin... ORPHA:98907
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis OMIM:611812
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Alagille Syndrome 1
Renal tubular acidosis, Hypoplasia of the ulna, Papillary thyroid carcinoma, Multiple small medul... OMIM:118450
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Shallow acetabular fossae, Hyperlipidemia, Bone marrow hypocellul... ORPHA:1830
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Abnormality of urine homeostasis, Splenomegaly ORPHA:1414
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Polycystic ovaries, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resist... OMIM:608594
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Upper limb undergrowth, Hydronephrosis, Duplication o... OMIM:236680
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Hypertriglyceridemia, Poly... OMIM:619418
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Polycystic ovaries, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resist... OMIM:269700
19P13.12 Microdeletion Syndrome
Hypothyroidism, Toe clinodactyly, Short palm, Finger syndactyly, Hyperlipidemia, Cryptorchidism, ... ORPHA:254346
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic s... OMIM:235400
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Wiedemann-Rautenstrauch Syndrome
Long toe, Cryptorchidism, Thin ribs, Increased serum testosterone level, Hypospadias, Long penis,... OMIM:264090
Neutral Lipid Storage Myopathy
Pineal cyst, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating creatine... ORPHA:98908
Tetraamelia Syndrome 1
Urethral atresia, Hypoplastic pelvis, Adrenal gland agenesis, Asplenia OMIM:273395
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Elevated circulating C-reactiv... OMIM:619573
Cushing Disease
Pituitary corticotropic cell adenoma, Leukocytosis, Decreased eosinophil count, Increased urinary... ORPHA:96253
Atypical Werner Syndrome
Glycosuria, Short palm, Hyperinsulinemia, Rocker bottom foot, Ovarian neoplasm, Insulin-resistant... ORPHA:79474
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... ORPHA:157
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketonuria, Hyperlipidemia ORPHA:2089
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Osteolytic defects of the distal phalanges of the hand, Short p... OMIM:608612
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating ac... ORPHA:228308
Doors Syndrome
Abnormality of toe, Nephrocalcinosis, Increased urine alpha-ketoglutarate concentration, Cutaneou... ORPHA:79500
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Polycystic ovaries, Splenomegaly ORPHA:90970
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Thymus hyperplasia OMIM:619036
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydronephrosis, Increased serum estradiol, Increased circulating prolactin concen... ORPHA:3455
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Biliar... ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Hyperlipidemia, Osteolytic defects of the distal phalanges of the ... ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Osteolytic defects of the distal phalanges of the hand, Insulin... OMIM:248370
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria,... ORPHA:439232
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Macroscopic hematuria, Chronic kidney disease, Albuminuria, Microscopic hematuria... ORPHA:567546
Aromatase Deficiency
Hyperlipidemia, Cryptorchidism, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Macr... ORPHA:91
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Decreased serum testosterone concentra... OMIM:241080
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hematuria, Hyperuricemia ORPHA:35909
Glycogen Storage Disease Ic
Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly, Hyper... OMIM:232240
Craniorachischisis
Bifid sternum ORPHA:63260
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Micropenis, Decreased serum te... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Short distal phalanx of f... ORPHA:90153
Proteus Syndrome
Renal cyst, Finger syndactyly, Metatarsus valgus, Diabetes insipidus, Clinodactyly of the 5th fin... ORPHA:744
Lipodystrophy, Familial Partial, Type 7
Polyuria, Type I diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Elevated circulating creatine... ORPHA:565612
Familial Multiple Lipomatosis
Bowing of the long bones, Hyperlipidemia ORPHA:199276
Alström Syndrome
Hyoplasia of the Leydig cells, Functional abnormality of the bladder, Dysuria, Urinary urgency, D... ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Brachydactyly, Gonadotropin deficiency, Central diabetes insipidus, Hyperlipidemia, Hyponatremia,... ORPHA:293987
Fabry Disease
Hyperlipidemia, Nephrotic syndrome, Hematuria, Proteinuria, Diabetes insipidus, Abnormal circulat... ORPHA:324
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, Hy... ORPHA:99413
Turner Syndrome
Hashimoto thyroiditis, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, Hy... ORPHA:881
Monosomy X
Hashimoto thyroiditis, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, Hy... ORPHA:99226
Mosaic Monosomy X
Hashimoto thyroiditis, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, Hy... ORPHA:99228
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Short metacarpal, Tapered finger, Hyperextensibility of the finger... OMIM:303600
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Renal artery stenosis, Increased LDL cholesterol concentration ORPHA:391665
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, In... ORPHA:100924
Porphyria, Acute Hepatic
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:612740

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.

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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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