Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3
Synonyms:
1100001H14Rik,  6330442E02Rik

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
preweaning lethality, complete penetrance Adamts3tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Ambiguous
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Ambiguous
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood vessel 0.0%
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyer's patch 0.66% (1 of 152)
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
uterus 0.36% (2 of 554)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

4 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 144 images

Human diseases caused by Adamts3 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 Adamts3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Lymphopenia, Chylothorax, Splenomegaly, Pulmonary lymph... ORPHA:2136
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154

The table below shows human diseases predicted to be associated to Adamts3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Pallor, Persistence of hemoglobin F, Anemia ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Pallor, Anisocytosis, Anemia, Poikil... OMIM:615631
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune... OMIM:266200
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Polyhydramnios, Anemia,... ORPHA:163596
Lymphatic Malformation 9
Predominantly lower limb lymphedema, Tortuous lymphatic vessels OMIM:619319
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... ORPHA:848
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hype... OMIM:153100
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepato... ORPHA:824
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Abnormal lymphati... ORPHA:90362
Leishmaniasis
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia,... ORPHA:507
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis, Edema, Lymphangiectasis OMIM:602579
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels OMIM:153200
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels OMIM:153300
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrhage, ... ORPHA:464329
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... ORPHA:231222
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... OMIM:300908
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... ORPHA:3226
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Retinitis Pigmentosa 42
Pallor OMIM:612943
Kasabach-Merritt Syndrome
Petechiae, Anemia, Leukopenia, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Purpura,... ORPHA:2330
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Acute Peripheral Arterial Occlusion
Pallor, Stroke, Leukocytosis ORPHA:90064
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, ... ORPHA:822
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Lymphedema, Pericardial lymphangiectasia, Intestinal lymphangiectasia OMIM:616006
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Yellow Nail Syndrome
Lymphedema, Biliary tract neoplasm, Hypoplasia of lymphatic vessels ORPHA:662
Parkes Weber Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... ORPHA:90307
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... ORPHA:300298
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Pallor, Anisocytosis, Elevated hepatic transaminase, Poikilocy... ORPHA:98870
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema, Edema, Intestinal lymphangiectasia, Stillbirth OMIM:152800
Optic Atrophy 9
Pallor OMIM:616289
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... OMIM:600462
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema, Lymphadenopathy ORPHA:3386
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... ORPHA:1959
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Peripheral Cone Dystrophy
Pallor OMIM:609021
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatocell... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, P... ORPHA:231214
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Hepatomegaly, Lymphopenia, Pallor, Hepatosplenomegaly, Lymphadenitis, Eosi... ORPHA:331206
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Chromomycosis
Lymphangiectasis, Predominantly lower limb lymphedema, Lymphedema, Edema ORPHA:182
Autoimmune Hemolytic Anemia
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Polyhydramnios, Lymphede... OMIM:235255
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia, Stroke ORPHA:49827
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Pallor, Leukocytosis, Eo... ORPHA:98849
Waldenström Macroglobulinemia
Hepatomegaly, Stroke, Splenomegaly, Pallor, Normocytic anemia, Vasculitis, Abnormality of neutrop... ORPHA:33226
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Optic Atrophy 1
Pallor OMIM:165500
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinitis Pigmentosa 70
Pallor OMIM:615922
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reduced level of N-acetylglucosaminy... OMIM:224120
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Thrombocytopenia, Erythroid hyp... ORPHA:101096
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, E... ORPHA:90051
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts OMIM:616307
Retinitis Pigmentosa 73
Pallor OMIM:616544
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Abnormality of the lymphatic system, Lymphede... ORPHA:2035
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd... ORPHA:3203
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Pleural lymphangiectasia, Spina bifida occulta, Lymphedema, Intestinal ... OMIM:235510
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Increased hepatic glycogen... ORPHA:263455
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphadenopathy, Portal fibrosis, Tr... ORPHA:3260
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poikilocytosis, ... ORPHA:288
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Dehydration, Leukopenia, A... ORPHA:20
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, P... ORPHA:86839
Fumarase Deficiency
Pallor, Polycythemia, Cholestasis, Hepatic failure OMIM:606812
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplenomegaly, Poly... ORPHA:1655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Pallor, Persistence of hemoglobin F, Leukopenia, ... ORPHA:124
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Dehydration, Thrombocytosis, Edema ORPHA:134
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Pallor, Elevated hepatic transaminase, Hepatic s... ORPHA:348
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Rare Circulatory System Disease
Arterial calcification, Pallor, Abnormal systemic arterial morphology, Arterial tortuosity, Vascu... ORPHA:98028
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor, Cerebral edema ORPHA:439218
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Retinitis Pigmentosa 51
Pallor OMIM:613464
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Non-Functioning Paraganglioma
Pallor, Cerebral hemorrhage ORPHA:94080
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Dermal transl... OMIM:137940
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Dravet Syndrome
Pallor ORPHA:33069
Costello Syndrome
Lymphangiectasis, Polyhydramnios, Webbed neck, Redundant neck skin OMIM:218040
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pallor, Anemia, Pulmonary artery stenosis, Lymphadenopathy ORPHA:667
Fanconi Anemia, Complementation Group I
Pallor, Neutropenia OMIM:609053
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Pallor, Coarctation of aorta, Thrombocytosis, Neutropenia, Webbed ... OMIM:105650
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Lymphopenia, Chylothorax, Splenomegaly, Pulmonary lymph... ORPHA:2136
Retinitis Pigmentosa 75
Pallor OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Neonatal death, Tetralog... OMIM:265380
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Stroke, Pallor, Polycythemia, Macular edema, Pancreatic cysts, Pancreat... ORPHA:892
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Pancyto... OMIM:227646
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Hemolytic anemia, Edema, Generalized edema, ... ORPHA:544482
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Degcags Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Pallor, Anemia, Abnormal spleen morphology, Hepatosp... OMIM:619488
Histiocytoid Cardiomyopathy
Pallor, Pulmonary edema, Hepatomegaly, Stroke-like episode ORPHA:137675
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Cerebral hemorrhage ORPHA:276621
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Fanconi Anemia, Complementation Group C
Neutropenia, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia OMIM:227645
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Sheehan Syndrome
Pallor, Normochromic anemia, Dry skin ORPHA:91355
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Childhood Absence Epilepsy
Pallor ORPHA:64280
Multiple Endocrine Neoplasia Type 2
Cervical lymphadenopathy, Neoplasm of the liver, Pallor ORPHA:653
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Cerebral hemorrhage ORPHA:29072
Incontinentia Pigmenti
Pallor, Eosinophilia, Erythema, Leukocytosis OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Esophageal Atresia
Pallor, Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot ORPHA:1199
Prolactinoma
Pallor ORPHA:2965
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Pulmonary lymphan... ORPHA:538
Tsh-Secreting Pituitary Adenoma
Pallor, Pericardial effusion ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Tuberous Sclerosis Complex
Aortic aneurysm, Pulmonary lymphangiomyomatosis, Hepatic cysts ORPHA:805
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis OMIM:191100
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis OMIM:613254
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154

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 Adamts3

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 Adamts3.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Secreted Glycoprotein Reelin Suppresses the Proliferation and Regulates the Distribution of Oligodendrocyte Progenitor Cells in the Embryonic Neocortex. The Journal of neuroscience : the official journal of the Society for Neuroscience (September 2020) Adamts3tm1a(KOMP)Wtsi 32913108
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Adamts3tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Adamts3tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adamts3tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Adamts3tm1b(KOMP)Wtsi