Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 7
Synonyms:
ADAM-TS7

IMPC Data Collections

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

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.

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
phenotypes
Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated circul... OMIM:616829
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Limb ataxia, Gait ataxia, Depression, Dysphagia, Aspiration ORPHA:98760
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased hema... ORPHA:284227
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Developmental And Epileptic Encephalopathy 38
Aspiration, Irritability, Ataxia OMIM:617020
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Simplified gyral pattern, Irritability, Athetosis, Bruxism, Aspiration,... OMIM:613454
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Respiratory insu... ORPHA:100924
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Agitation, Dysphagia, Aspiration, Pachygyria, Agyria ORPHA:2148
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Depression, Inappropriate be... OMIM:168605
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... ORPHA:3077
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Distal sensory impairment, Dysphagia OMIM:606070
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dy... ORPHA:2131
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Apnea, Dyspnea, Irritability, Hyperventilation OMIM:229700
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Distal sensory impairment, Dysphagia ORPHA:600
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Reduced forced vital c... OMIM:164310
Pontine Tegmental Cap Dysplasia
Aspiration, Ataxia, Dysmetria, Dysphagia OMIM:614688
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... ORPHA:258
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Poems Syndrome
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect,... ORPHA:2905
Gm2-Gangliosidosis, Ab Variant
Aspiration, Chorea OMIM:272750
Tay-Sachs Disease
Aspiration OMIM:272800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Tachycardia, Apnea, Retinal hemorrhage, Stridor, Hypertension, Bra... OMIM:614653
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Self-mutilation, Dysphagia OMIM:618922
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... OMIM:600376
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Aspiration, Pachygyria, Abnormal repetitive mann... OMIM:619777
Bilateral Perisylvian Polymicrogyria
Apnea, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Dysmet... ORPHA:98889
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Periventricular heterotopia OMIM:618733
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H... OMIM:209880
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Livedoid Vasculopathy
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic stroke, Paresthesi... ORPHA:542643
Halperin-Birk Syndrome
Aspiration, Pseudobulbar paralysis OMIM:618651
Ogden Syndrome
Premature atrial contractions, Apnea, Abnormal repetitive mannerisms, Patent ductus arteriosus, V... OMIM:300855
Adnp Syndrome
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive behaviors, Abnor... ORPHA:404448
Opitz Gbbb Syndrome
Aspiration, Dysphagia OMIM:300000
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior ORPHA:309246
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Oral aversion ORPHA:96182
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Pneumonia, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Pneumonia, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnor... ORPHA:353277
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Pneumonia, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnor... ORPHA:353281
Abcd Syndrome
Polycythemia OMIM:600501
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Portal hypertension, Splenomegaly, Dysdiadochokinesis, Truncal ataxia, Hypertrophic cardiomyopath... ORPHA:309854
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Neonatal respiratory distress, Apnea, Portal hypertension, Impulsivity, Asthma,... OMIM:619503
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Fumarase Deficiency
Polymicrogyria, Polycythemia, Lissencephaly OMIM:606812
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Von Hippel-Lindau Syndrome
Hypertension, Polycythemia OMIM:193300
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Leukocytosis, B... ORPHA:2968
Beckwith-Wiedemann Syndrome
Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia ORPHA:116

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 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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