Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
regulator of telomere elongation helicase 1
Synonyms:
N/A

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 Rtel1 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 Rtel1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation OMIM:615190
Hoyeraal-Hreidarsson Syndrome
Short stature, Intrauterine growth retardation ORPHA:3322
Dyskeratosis Congenita
Short stature, Intrauterine growth retardation, Telangiectasia of the skin ORPHA:1775
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency ORPHA:2032
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
OMIM:616373

The table below shows human diseases predicted to be associated to Rtel1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural effusion, Cardiomegaly, Pericardia... OMIM:614702
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Congenital Heart Block
Oligohydramnios, Endocardial fibroelastosis, Pleural effusion, Peripheral edema, Patent foramen o... ORPHA:60041
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... OMIM:115197
Congenital Disorder Of Glycosylation, Type Il
Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect OMIM:608776
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Multiple muscular ventricular septal defects, Pericardial effusion, Atrial septal... OMIM:620070
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion ORPHA:36412
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe... ORPHA:292
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Cardiomyopathy, Biventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Periph... OMIM:261740
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Lymphedema, Pleural effusion, Ventricular septal defect, Nonimmune hydrops feta... OMIM:235510
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Ventricular septal de... ORPHA:363705
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema OMIM:617822
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema ORPHA:90362
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Pleural effusion ORPHA:79126
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
Pediatric Systemic Lupus Erythematosus
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:93552
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Aicardi-Goutieres Syndrome 9
Ascites, Left ventricular hypertrophy, Pericardial effusion, Edema, Pericarditis OMIM:619487
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe... ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Pericardial effusion, Ventricular septal defect OMIM:618775
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema ORPHA:199241
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Edema, Pericarditis OMIM:212065
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Poems Syndrome
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:2905
Q Fever
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... ORPHA:781
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Alg9-Cdg
Abnormal heart morphology, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Abno... ORPHA:79328
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Aymé-Gripp Syndrome
Pericardial effusion, Hydrocephalus, Pericarditis ORPHA:1272
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Pericardial effusion, Hydrops fetalis ORPHA:2136
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium ORPHA:538
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Oligohydramnios, Pericardial effusion, Edema OMIM:615846
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion ORPHA:73224
Myhre Syndrome
Aortic valve stenosis, Pericardial effusion, Atrial septal defect, Ventricular septal defect OMIM:139210
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Gitelman Syndrome
Pericardial effusion ORPHA:358
Crimean-Congo Hemorrhagic Fever
Ascites, Pericardial effusion, Myocarditis ORPHA:99827
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Pericardial effusion, Cardiomegaly, Polyhydramnios, Hydrops fet... ORPHA:51608
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis ORPHA:79318
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation OMIM:615190
Hoyeraal-Hreidarsson Syndrome
Short stature, Intrauterine growth retardation ORPHA:3322
Dyskeratosis Congenita
Short stature, Intrauterine growth retardation, Telangiectasia of the skin ORPHA:1775
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency ORPHA:2032
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
OMIM:616373

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 Rtel1

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 Rtel1.

No publications found that use IMPC mice or data for Rtel1.

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
Rtel1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rtel1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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