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ENU mutagenesis derived Ednray129F-/- mice as a new model for human velocardiofacial syndrome/DiGeorg syndrome (VCFS/DGS)

ABSTRACT: Human velocardiofacial syndrom/DiGeorg (VCFS/DGS) syndrom is a complex developmental disease with various expression of a large number of phenotypes. Craniofacial, cardiac, behavioural and endocrinological phenotypes are cardinal symptoms liked to the 22Q11.2 deletion occuring in 1/4.000 births. Several genes located within the 1.5 to 3 Mb deletion resemble a number of phenotypes demonstrated in mouse models for these genes including the endothelin receptor A (Ednra) gene. This is the first report on gene dosage effects observed in a dominant mouse model carrying an EdnraY129F point-mutation. EdnraY129F/+ mice are viable despite a strong cardiac phenotype alike to Fallot's tetralogy concomitant with cardiofacial, otolaryngeal phenotypes and deafness.

ORGANISM(S): Mus musculus

PROVIDER: GSE47781 | GEO | 2014/05/02

SECONDARY ACCESSION(S): PRJNA207801

REPOSITORIES: GEO

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ENU mutagenesis derived Ednray129F-/- mice as a new model for human velocardiofacial syndrome/DiGeorg syndrome (VCFS/DGS)

Project description:Human velocardiofacial syndrom/DiGeorg (VCFS/DGS) syndrom is a complex developmental disease with various expression of a large number of phenotypes. Craniofacial, cardiac, behavioural and endocrinological phenotypes are cardinal symptoms liked to the 22Q11.2 deletion occuring in 1/4.000 births. Several genes located within the 1.5 to 3 Mb deletion resemble a number of phenotypes demonstrated in mouse models for these genes including the endothelin receptor A (Ednra) gene. This is the first report on gene dosage effects observed in a dominant mouse model carrying an EdnraY129F point-mutation. EdnraY129F/+ mice are viable despite a strong cardiac phenotype alike to Fallot's tetralogy concomitant with cardiofacial, otolaryngeal phenotypes and deafness. Total RNA obtained from 4 male heterzygote and 4 male wildtype mice

2014-05-02 | E-GEOD-47781 | biostudies-arrayexpress

ENU derived mouse line AEA001: A model for osteoporosis carrying a mutation in Ednra

Project description:Transcriptome analysis of white adipose tissue and bone (femur of the hind limbs) of the AEA001 mutant mouse. ENU generated mouse lines for osteoporosis. The mutation in the Ednra gene causes big ears and a flat short head. Due to a decreased body mass and a trend towards decreased glucose level white adipose tissue was analysed.

2014-09-01 | GSE40428 | GEO

The DiGeorge Syndrome gene TBX1 is required to specify the nkx2.5+ cardiopharyngeal lineage

Project description:Hemizygous microdeletions on chromosome 22q11.2 cause a broad spectrum of congenital cardiovascular and craniofacial anomalies known collectively as DiGeorge Syndrome (DGS) that appear to arise from reduced expression of TBX1, a gene in the typically deleted region. Although mice lacking tbx1 display similar, yet more severe, cardiovascular and craniofacial defects, the mechanisms underlying these devastating phenotypes remain incompletely understood. Here, we report that Tbx1 is required prior to pharyngeal arch development to specify the nkx2.5+ cardiopharyngeal cell lineage that gives rise to the cardiovascular and crainiofacial structures absent in tbx1 null zebrafish. Importantly, the role of Tbx1 during cardiopharyngeal lineage specification is conserved in mammals. Further, we learned that DVR1, the zebrafish homolog of mammalian GDF1/3, functions downstream of Tbx1 for pharyngeal progenitor specification. Together, these studies unveil a new paradigm potentially underlying the cardiovascular and craniofacial defects observed in the DGS population.

2018-07-31 | GSE103120 | GEO

Transcription profile in patients with acyanotic Tetralogy of Fallot

Project description:To determine cardiac transcription profile in acyanotic Tetralogy of Fallot patients, we collected myocardial samples immediately after institution of cardiopulmonary bypass from acyanotic Tetralogy of Fallot patients undergoing corrective surgery. The transcriptional profile of the mRNA in these samples was measured with gene array technology. Myocardial samples were collected, immediately after institution of cardiopulmonary bypass from acyanotic Tetralogy of Fallot patients undergoing corrective surgery.

2010-02-27 | E-GEOD-14955 | biostudies-arrayexpress

Transcription profile in patients with cyanotic Tetralogy of Fallot

Project description:To determine cardiac transcription profile in cyanotic Tetralogy of Fallot patients, we collected myocardial samples immediately after institution of cardiopulmonary bypass from cyanotic Tetralogy of Fallot patients undergoing corrective surgery. The transcriptional profile of the mRNA in these samples was measured with gene array technology. Myocardial samples were collected, immediately after institution of cardiopulmonary bypass from cyanotic Tetralogy of Fallot patients undergoing corrective surgery.

2010-02-27 | E-GEOD-14956 | biostudies-arrayexpress

ENU derived mouse line AEA001: A model for osteoporosis carrying a mutation in Ednra

2014-09-01 | E-GEOD-40428 | biostudies-arrayexpress

Transcription profile in patients with cyanotic Tetralogy of Fallot

2010-02-23 | GSE14956 | GEO

Transcription profile in patients with acyanotic Tetralogy of Fallot

2010-02-23 | GSE14955 | GEO

Transcription profile in patients with acyanotic or cyanotic Tetralogy of Fallot

Project description:To determine cardiac transcription profiles, we collected myocardial samples immediately after institution of cardiopulmonary bypass from acyanotic or cyanotic Tetralogy of Fallot patients undergoing corrective surgery. The transcriptional profile of the mRNA in these samples was measured with gene array technology. Myocardial samples were collected, immediately after institution of cardiopulmonary bypass from acyanotic or cyanotic Tetralogy of Fallot patients undergoing corrective surgery.

2010-02-27 | E-GEOD-14970 | biostudies-arrayexpress

Transcription profile in patients with cyanotic Tetralogy of Fallot undergoing corrective surgery using hyperoxic/standard cardiopulmonary bypass

Project description:To determine cardiac transcription profile in cyanotic Tetralogy of Fallot patients subjected to hyperoxic/standard cardiopulmonary bypass, we collected myocardial samples at the end of the ischemic time. The transcriptional profile of the mRNA in these samples was measured with gene array technology Myocardial samples were collected at the end of ischemic time from cyanotic Tetralogy of Fallot patients undergoing corrective surgery using hyperoxic/standard cardiopulmonary bypass

2012-12-06 | E-GEOD-38161 | biostudies-arrayexpress

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