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
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:620357
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:617068
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:615506
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Laryngotracheoesophageal Cleft
Choking episodes, Aspiration, Impaired oropharyngeal swallow response, Cyanosis ORPHA:2004
Spinocerebellar Ataxia Type 8
Limb ataxia, Depression, Aspiration, Gait ataxia, Ataxia, Dysphagia, Impaired vibratory sensation ORPHA:98760
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Hyperactivity, ... ORPHA:3077
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Aspiration, Chorea, Athetosis, Simplified gyral pattern, Pachygyr... OMIM:613454
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Developmental And Epileptic Encephalopathy 38
Aspiration, Irritability, Ataxia OMIM:617020
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Agitation, Aspiration, Agyria, Dysphagia, Pachygyria ORPHA:2148
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Alternating Hemiplegia Of Childhood
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Emotional lability, Aspiration, Chorea,... ORPHA:2131
Tempi Syndrome
Hypoxemia, Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiectasia ORPHA:284227
Pontine Tegmental Cap Dysplasia
Aspiration, Ataxia, Dysphagia, Dysmetria OMIM:614688
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Distal sensory impairment, Dysphagia ORPHA:600
Amyotrophic Lateral Sclerosis 21
Aspiration, Distal sensory impairment, Dysphagia OMIM:606070
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia OMIM:610768
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Reduced left ventricular ejection fraction, Aspiration, Cardiomyopathy, Pulmonar... ORPHA:258
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Budd-... ORPHA:729
Erythrocytosis, Familial, 2
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... OMIM:263400
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Aspiration, Hypertrophic cardiomyopathy, Ataxia, Dysphagia, Hyper... OMIM:164310
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Abnormal erythrocyte enzyme concentration ... ORPHA:100924
Gm2-Gangliosidosis, Ab Variant
Aspiration, Chorea OMIM:272750
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Cyanosis, Methemoglobinemia OMIM:250800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Developmental And Epileptic Encephalopathy 100
Aspiration, Chorea, Polymicrogyria, Gait ataxia, Dysphagia, Pachygyria, Motor stereotypy, Choreoa... OMIM:619777
Livedoid Vasculopathy
Ischemic stroke, Anemia, Pancytopenia, Hypertension, Hyperesthesia, Leukocytosis, Polycythemia, T... ORPHA:542643
Tay-Sachs Disease
Aspiration OMIM:272800
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Self-mutilation, Dysphagia OMIM:618922
Hyperekplexia 1
Aspiration OMIM:149400
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Aspiration, Abnormality of neuronal migration, D... ORPHA:98889
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior ORPHA:309246
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Aspiration, Hypertension, Retinal hemorrhage, Tachycardia OMIM:614653
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Neuromuscular Oculoauditory Syndrome
Aspiration, Periventricular heterotopia OMIM:618733
Poems Syndrome
Hyperesthesia, Pulmonary arterial hypertension, Polycythemia, Splenomegaly, Acrocyanosis, Thrombo... ORPHA:2905
Ogden Syndrome
Irritability, Iron deficiency anemia, Aspiration, Supraventricular tachycardia, Premature ventric... OMIM:300855
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Halperin-Birk Syndrome
Aspiration, Pseudobulbar paralysis OMIM:618651
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Aspiration, Compulsive behaviors, Polyphagia... ORPHA:404448
Opitz Gbbb Syndrome
Aspiration, Dysphagia OMIM:300000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Oral aversion ORPHA:96182
Esophageal Atresia
Aspiration, Oral aversion, Cyanosis, Dysphagia ORPHA:1199
Abcd Syndrome
Polycythemia OMIM:600501
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Hypertension, Abnormal fear-induced behavior OMIM:219090
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Truncal ataxia, Dysdiadochokinesis, Hypertrophic cardiomyopathy, Portal hypertension, Polycythemi... ORPHA:309854
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Aspiration, Hyperactivity, Compulsive behavio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Aspiration, Hyperactivity, Compulsive behavio... ORPHA:353277
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Down Syndrome
Impaired pain sensation, Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryoc... ORPHA:870
Fumarase Deficiency
Polymicrogyria, Polycythemia, Lissencephaly OMIM:606812
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Cardiomyopathy, Polycythemia, Arrhythmia, Palpitations, Abnormal left ... ORPHA:892
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Aspiration, Low frustration tolerance, Portal hypertension, Impulsivity, Stereot... OMIM:619503
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Von Hippel-Lindau Syndrome
Polycythemia, Hypertension OMIM:193300
Acrofacial Dysostosis, Cincinnati Type
Aspiration, Dysphagia, Patent ductus arteriosus OMIM:616462
Beckwith-Wiedemann Syndrome
Polycythemia, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:116
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Polycythemia, Impaire... ORPHA:2968

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

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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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