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
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
small adrenal glands Aladem1(IMPC)Tcp HET Early adult 0.00
increased circulating triglyceride level Aladem1(IMPC)Tcp HET   Early adult 1.04×10-05
enlarged thymus Aladem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Aladem1(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to organogenesis Aladem1(IMPC)Tcp HOM   E9.5 0.00
enlarged urinary bladder Aladem1(IMPC)Tcp HET 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 Slit Lamp

58 Images

Eye Morphology

Images Ophthalmoscopy

147 Images

Gross Pathology and Tissue Collection

Images

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 Dorso Ventral Orientation

10 Images

Histopathology

Images

17 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

3 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Myeloproliferative disorder, Purple urine, Increased erythrocyte protoporphyrin concentration, Hy... 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
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Vi
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... OMIM:607616
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentrat... OMIM:245900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Adrenal calcification ORPHA:75234
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly of the 5th finger OMIM:618010
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Hypert... OMIM:603552
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholesterol ... OMIM:615703
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Lcat Deficiency
Hematuria, Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplen... OMIM:612526
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus 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, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes mellitus, Hepa... OMIM:610717
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Maturity-onset diabetes of the young, Hypertriglyceridemia,... OMIM:616222
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemi... OMIM:300635
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypertriglyceridemia, Adrenal insufficiency, Increased... OMIM:307030
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Lymphopenia, Hypertriglycerid... OMIM:617575
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Hypertriglyceridemia, Abnormal circulating hormone concentr... ORPHA:280356
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hy... ORPHA:79085
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Steatorrhea, Hepatomegaly, ... OMIM:278000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Arachn... OMIM:619013
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal... ORPHA:404
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adr... OMIM:613677
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppress... ORPHA:403
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... OMIM:603278
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hy... ORPHA:435651
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Bile duct proliferation, Splenomegaly OMIM:613027
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... ORPHA:251274
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hy... ORPHA:435660
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnor... ORPHA:567548
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Polycyst... OMIM:604367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased cir... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... OMIM:615830
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Brachydactyly, Shor... OMIM:182290
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Hepatomegaly, Hypertriglyceridemia, Hypogonadism, Diabetes mellitus OMIM:615381
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, I... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Nephrolithiasis, Macronodular adrenal hyperplasia ORPHA:189427
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Bowing of the long bones, Nephrop... ORPHA:2088
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Alstrom Syndrome
Diabetes insipidus, Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypoth... OMIM:203800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Enuresis, Acute hyperammonemia, Hypertriglyceridemia, Hepa... ORPHA:247585
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Tarsal synostosis, Abnormal response ... ORPHA:95699
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hyperuricemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepato... ORPHA:79083
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Hypokalemia, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Finger swelling, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Anemia, Splen... OMIM:617591
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diabetes mellitus ORPHA:2348
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Abnormal renal physiology, Hemophagocytosis, Neutro... ORPHA:540
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypothyroidism, Hepatomegaly, Hypertriglyceridemia, Decreased ... ORPHA:412
Xp21 Deletion Syndrome
Finger clinodactyly, Primary adrenal insufficiency, Hypertriglyceridemia, Adrenal insufficiency, ... ORPHA:261476
Smith-Magenis Syndrome
Hypercholesterolemia, Hand polydactyly, Toe syndactyly, Hypothyroidism, Abnormality of the ureter... ORPHA:819
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hypospadias, Adrenal hyperplasia, Micropenis, Premature pubarche OMIM:201810
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Slender long bone, Thrombocytopenia, Increased ... ORPHA:96181
H Syndrome
Enlarged kidney, Microcytic anemia, Camptodactyly, Hypertriglyceridemia, Histiocytosis, Delayed p... ORPHA:168569
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Cholesterol gallstones, Hypertriglyceridemia, Increased LDL cholesterol con... ORPHA:209902
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Polycystic ovaries, Renal tubular acidosis, Hypertriglyceridemia, Hepatomeg... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Polycystic ovaries, Renal tubular acidosis, Hypertriglyceridemia, Hepatomeg... ORPHA:264580
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Elevated hemoglobin A1c, Cone-shaped epiphysis, G... OMIM:617253
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Macroorchidism, Hyponatremia, Hyperactive renin-angiotensin... ORPHA:90790
Cushing Disease
Hypokalemia, Nephrolithiasis, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian insuffici... ORPHA:96253
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Decreased serum leptin, Polycystic ovaries, Hepatomega... ORPHA:280365
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Cryptorchidism, Hypothyroidism, Hyponatremia, Polyuria, Hypertriglyceridemia, Hypoa... OMIM:618183
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus, ... ORPHA:79086
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Glomerular sclerosis, Hypoalbuminemia, Renal insufficiency, Diff... OMIM:256300
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Decreased testicular size, Hypertriglyceridemia, Hypospadias OMIM:610644
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Hypernatriuria... ORPHA:275761
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hypertriglyceridemia, Diabetes mellitus, Hepatos... ORPHA:444490
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphade... ORPHA:79477
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine... OMIM:613327
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Phalangeal dislocation, Sandal gap, Hypertriglyceridemia, Shoulder dislocation, E... ORPHA:536532
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
Microtriplication 11Q24.1
Genu valgum, Metatarsus adductus, Small hand, Short foot, Clinodactyly of the 5th finger, Hyperli... ORPHA:289522
Multiple Synostoses Syndrome 1
Short hallux, Fusion of midphalangeal joints, Dislocated radial head, Aplasia/Hypoplasia of the m... OMIM:186500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Thyroiditis, Hyp... ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Upper limb undergrowth, Congenital megaureter, Slender long bone, Hypertriglyceridemia, Hypercalc... ORPHA:369837
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
Chronic noninfectious lymphadenopathy, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemi... ORPHA:31150
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... OMIM:151660
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hepatomegaly OMIM:232400
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... ORPHA:167
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Niemann-Pick Disease Type B
Autoimmune thrombocytopenia, Decreased serum insulin-like growth factor 1, Acute promyelocytic le... ORPHA:77293
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Delayed puberty, Hyperlipidemia, Proteinuria ORPHA:369
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Camptodactyly of finger, Parotitis, Microcytic anemia, Hypoplastic scapulae,... OMIM:256040
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Decreased fibular diame... OMIM:619127
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... ORPHA:98907
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis OMIM:611812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Schimke Immuno-Osseous Dysplasia
Hypoplastic pelvis, Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Abnormal pro... ORPHA:1830
Alagille Syndrome 1
Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal hypoplasia, Hypoplasia of the uln... OMIM:118450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia,... OMIM:608594
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Splenomegaly, Hyperlipidemia, Hepatomegaly ORPHA:1414
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia,... OMIM:269700
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Postaxial hand polydactyly, Upper limb undergrowth, Accessory spleen, ... OMIM:236680
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
19P13.12 Microdeletion Syndrome
Cryptorchidism, Finger syndactyly, Hypothyroidism, Sandal gap, Toe clinodactyly, Hypospadias, Pre... ORPHA:254346
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Anuria, Re... OMIM:235400
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes ... ORPHA:98908
Tetraamelia Syndrome 1
Urethral atresia, Asplenia, Adrenal gland agenesis, Hypoplastic pelvis OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Short femur, Long penis, Hypoplastic ilia, Increased serum testosterone level, Sh... OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Hyperlipidemia, Glycosuria ORPHA:2089
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor ORPHA:363618
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Focal segmental glomerulosclerosis, Hyperuricemia, Hyperlipidemia, ... OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
Atypical Werner Syndrome
Hip dysplasia, Rocker bottom foot, Premature ovarian insufficiency, Ovarian neoplasm, Hyperinsuli... ORPHA:79474
Doors Syndrome
Abnormality of toe, Nephrocalcinosis, Cutaneous syndactyly, Abnormality of finger, Thrombocytosis... ORPHA:79500
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Cholelithiasis, Biliary hyperplasia, Hepatomegaly, Abnormal circul... ORPHA:567983
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Focal segmental glomerulosclerosis, Hyperuricemia, Hyperlipidemia, ... OMIM:232200
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly OMIM:619036
Primary Lipodystrophy
Polycystic ovaries, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly ORPHA:90970
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Dilatation of renal calices, Vesicoureteral reflux, Long toe, Thin long bone diap... ORPHA:3455
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Aromatase Deficiency
Genu valgum, Cryptorchidism, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Delayed e... ORPHA:91
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevated circulatin... OMIM:241080
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic kidney disease, Abno... ORPHA:439232
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperuricemia, Hyperlipidemia ORPHA:35909
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macrosc... ORPHA:567546
Glycogen Storage Disease Ic
Xanthelasma, Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Hepatomegaly, Decrease... OMIM:232240
Craniorachischisis
Bifid sternum ORPHA:63260
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellit... ORPHA:3464
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Proteus Syndrome
Abnormality of finger, Long penis, Finger syndactyly, Ovarian neoplasm, Macrodactyly, Macroorchid... ORPHA:744
Familial Multiple Lipomatosis
Bowing of the long bones, Hyperlipidemia ORPHA:199276
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentr... ORPHA:565612
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, C... ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormality of the hypothalamus-pituitary axis, Premature adrenarche, Central hypothyroidism, Hyp... ORPHA:293987
Fabry Disease
Hematuria, Diabetes insipidus, Abnormal circulating lipid concentration, Nephropathy, Nephrotic s... ORPHA:324
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Delayed puberty, Type II diabetes mellitus, Hyperli... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Delayed puberty, Type II diabetes mellitus, Hyperli... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Delayed puberty, Type II diabetes mellitus, Hyperli... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Delayed puberty, Type II diabetes mellitus, Hyperli... ORPHA:99413
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Narrow iliac wing, Short metacarpal, Bifid sternum, Tapered finger,... OMIM:303600
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis ORPHA:391665
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Purple urine, Increased erythrocyte protoporphyrin concentration, Hy... 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
Aladem1(IMPC)Tcp Exon Deletion Mice, Tissue
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

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