banner
Genes Phenotypes Help, News, Blog

Gene: Rtel1 MGI:2139369

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Intrauterine growth retardation, Short stature ORPHA:3322
Dyskeratosis Congenita
Intrauterine growth retardation, Telangiectasia of the skin, Short stature 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
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Oligo... OMIM:614702
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Congenital Heart Block
Pericardial effusion, Hydrops fetalis, Peripheral edema, Endocardial fibroelastosis, Pleural effu... ORPHA:60041
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... OMIM:239850
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Polyhyd... OMIM:620070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites ORPHA:36412
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... 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
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:93552
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Ascites OMIM:619487
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema ORPHA:77259
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy ORPHA:300751
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy OMIM:212065
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema ORPHA:199241
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... ORPHA:781
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Mitral valve prolapse ORPHA:536532
Alg9-Cdg
Ventricular septal defect, Pericardial effusion, Hydrops fetalis, Abnormal heart morphology, Righ... ORPHA:79328
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Hydrocephalus ORPHA:1272
Hennekam Syndrome
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites ORPHA:538
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Hypertrophic cardiomyopathy, Edema, Oligohydramnios OMIM:615846
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Aortic valve stenosis OMIM:139210
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... OMIM:600901
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... OMIM:227650
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... OMIM:227645
Gitelman Syndrome
Pericardial effusion ORPHA:358
Crimean-Congo Hemorrhagic Fever
Pericardial effusion, Myocarditis, Ascites ORPHA:99827
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... ORPHA:51608
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ... OMIM:227646
Pmm2-Cdg
Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Hypertrophic cardiomyopathy ORPHA:79318
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation OMIM:615190
Hoyeraal-Hreidarsson Syndrome
Intrauterine growth retardation, Short stature ORPHA:3322
Dyskeratosis Congenita
Intrauterine growth retardation, Telangiectasia of the skin, Short stature 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter