Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Adamts7 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adamts7 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Decreased liver function, Hepatic steatosis, E... OMIM:616829
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin, Cough, Exertional dyspnea, Dyspnea ORPHA:90042
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea ORPHA:2004
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Exertional dyspnea, Methemoglobinemia, Cyanosis OMIM:250800
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Perry Syndrome
Respiratory arrest, Inappropriate behavior, Respiratory insufficiency, Suicidal ideation, Apathy,... OMIM:168605
Perry Syndrome
Central hypoventilation, Apathy, Hypotension, Depression ORPHA:178509
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Polycythemia, Transudative pleural effusion, ... ORPHA:284227
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Aspiration, Limb ataxia, Gait ataxia, Depression ORPHA:98760
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... OMIM:613812
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Spermatogenic Failure 15
Aspiration OMIM:616950
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... OMIM:600803
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... OMIM:310200
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Akinetic mutism, Pachygyria, Aspiration, Irritability, Agyria ORPHA:2148
Gm2-Gangliosidosis, Ab Variant
Chorea, Aspiration, Apathy OMIM:272750
Tay-Sachs Disease
Aspiration, Apathy OMIM:272800
Amyotrophic Lateral Sclerosis 21
Distal sensory impairment, Respiratory insufficiency due to muscle weakness, Aspiration OMIM:606070
Rett Syndrome, Congenital Variant
Athetosis, Inappropriate crying, Chorea, Simplified gyral pattern, Pachygyria, Aspiration, Irrita... OMIM:613454
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Tachycardia, Irritability, Dyspnea, Hyperventilation OMIM:229700
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Choreoathetosis, Chorea, Aggressive behavior, Ap... ORPHA:2131
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypercapnia, Respiratory insufficiency due t... OMIM:164310
Vocal Cord And Pharyngeal Distal Myopathy
Distal sensory impairment, Respiratory insufficiency due to muscle weakness, Aspiration ORPHA:600
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Reduced ejection fraction, Respiratory insufficiency, Pulmonary arte... ORPHA:258
Poems Syndrome
Thrombocytosis, Paresthesia, Polycythemia, Respiratory insufficiency due to muscle weakness, Pulm... ORPHA:2905
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Joubert Syndrome 17
Ataxia, Hyperventilation OMIM:614615
Pontine Tegmental Cap Dysplasia
Dysmetria, Ataxia, Aspiration OMIM:614688
Holocarboxylase Synthetase Deficiency
Tachypnea, Thrombocytopenia, Irritability, Hyperventilation OMIM:253270
Adult-Onset Cervical Dystonia, Dyt23 Type
Panic attack, Hyperventilation, Supraventricular arrhythmia ORPHA:420492
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic attack, Nasal mu... OMIM:187300
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Self-mutilation, Aspiration, Neonatal respiratory distress OMIM:618922
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Childhood Absence Epilepsy
Anxiety, Depression, Hyperventilation, Low self esteem ORPHA:64280
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Periventricular heterotopia OMIM:618733
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia, Apnea, Decreased heart rate variability, Central hypoventilation, Hypoven... OMIM:209880
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Opitz Gbbb Syndrome, Type I
Aspiration OMIM:300000
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Acute Liver Failure
Shock, Intracranial hemorrhage, Abnormal respiratory system physiology, Abnormal pattern of respi... ORPHA:90062
Livedoid Vasculopathy
Leukocytosis, Hypertension, Paresthesia, Ischemic stroke, Polycythemia, Anemia, Telangiectasia of... ORPHA:542643
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Dysmetria, Bilateral perisylvian polymicrogyria, Apnea, Perisy... ORPHA:98889
Hepatocellular Carcinoma
Thrombocytosis, Budd-Chiari syndrome, Polycythemia, Anemia, Emotional lability, Thrombocytopenia,... ORPHA:88673
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... ORPHA:1199
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Halperin-Birk Syndrome
Aspiration OMIM:618651
Adnp Syndrome
Aggressive behavior, Respiratory distress, Aspiration, Anxiety ORPHA:404448
Opitz Gbbb Syndrome, Type Ii
Aspiration, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:145410
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Obstructive sleep apnea ORPHA:96182
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Obstructive sleep apnea, Pneumonia, Cardiac conduction ab... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Obstructive sleep apnea, Pneumonia, Cardiac conduction ab... ORPHA:353277
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Polycythemia, Palpitations, Cardiomyopathy, Myocardial infarction, Anx... ORPHA:892
Fumarase Deficiency
Polycythemia, Polymicrogyria OMIM:606812
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Polycythemia, Splenomegaly, Dysdiadochokinesis, Truncal ataxia, Port... ORPHA:309854
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Neonatal respiratory distress, Apnea, Hepatosplenomegaly, Aspiration, Low frust... OMIM:619503
Leukocyte Adhesion Deficiency
Sinusitis, Leukocytosis, Thrombocytosis, Lymphocytic interstitial pneumonia, Pneumonia, Bronchiec... ORPHA:2968
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension OMIM:193300
Beckwith-Wiedemann Syndrome
Polycythemia, Sleep apnea, Hypertrophic cardiomyopathy, Splenomegaly ORPHA:116


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 Adamts7

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 Adamts7.

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MGI Allele Allele Type Produced
Adamts7tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Adamts7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Adamts7tm44269(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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