Characterization of the cardiogenesis in embryos of a Gse-1tm-1a(EUCOMM)Wtsi  mouse line

Baier, Eva

dc.contributor.advisor	Zeisberg, Elisabeth Prof. Dr.
dc.contributor.author	Baier, Eva
dc.date.accessioned	2021-07-16T10:22:46Z
dc.date.available	2021-08-12T00:50:08Z
dc.date.issued	2021-07-16
dc.identifier.uri	http://hdl.handle.net/21.11130/00-1735-0000-0008-58AE-2
dc.identifier.uri	http://dx.doi.org/10.53846/goediss-8738
dc.language.iso	eng	de
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddc	610	de
dc.title	Characterization of the cardiogenesis in embryos of a Gse-1tm-1a(EUCOMM)Wtsi mouse line	de
dc.type	doctoralThesis	de
dc.contributor.referee	Männer, Jörg PD Dr.
dc.date.examination	2021-08-05
dc.description.abstracteng	HLHS is classified as a cyanotic heart disease, which accounts for 25% of all CHD mortalities. It is the leading cause of death in infants under the age of one year. One human candidate gene called KIAA00182 (Gse-1 in mice) was hypothesized to be implied in the pathogenesis of HLHS because of a) a de novo mutation of it, which was found in a child suffering from HLHS, and b) the documented lethality of homozygous Gse-1 mice by the age of three weeks. The objective of this study was to determine the timepoint of embryonic lethality of homozygous Tm-1a embryos and to identify a putative cardiac phenotype. The genotype of embryos at three embryonic ages (E11.5 p.c., E13.5 p.c. and E15.5 p.c.) was determined by PCR. The external morphology was inspected and assessed with a scoring system (external-phenotype score), which allowed a severity classification of external aberrancies. In two parts, the hearts of Tm-1a embryos were histologically analyzed, where part I focussed on the evaluation of non-ventricular structures. In part II, the quantitative assessment of the ventricular compact zone was performed. The quantification was further substantiated by the calculation of a ventricular reduction ratio, which reflects the degree of myocardial non-compaction. The discovery of biventricular non-compaction in homozygous E15.5 hearts constitutes the first description of a cardiac phenotype of the Gse-1 mouse line, which was identified as one element of aberrant pathogenesis that further appears to contribute to embryonic lethality of Tm-1a homozygosity.	de
dc.contributor.coReferee	Wollnik, Bernd Prof. Dr.
dc.subject.eng	cardiogenesis	de
dc.subject.eng	embryogenesis	de
dc.subject.eng	GSE-1	de
dc.subject.eng	noncompaction	de
dc.subject.eng	hypoplastic left heart syndrome	de
dc.subject.eng	cardiac development	de
dc.subject.eng	cardiac phenotype	de
dc.subject.eng	HLHS	de
dc.identifier.urn	urn:nbn:de:gbv:7-21.11130/00-1735-0000-0008-58AE-2-8
dc.affiliation.institute	Medizinische Fakultät	de
dc.subject.gokfull	Medizin (PPN619874732)	de
dc.subject.gokfull	Pädiatrie / Neonatologie / Kinderchirurgie - Allgemein- und Gesamtdarstellungen (PPN619876093)	de
dc.subject.gokfull	Innere Medizin - Allgemein- und Gesamtdarstellungen (PPN619875747)	de
dc.subject.gokfull	Humangenetik / Teratologie - Allgemein- und Gesamtdarstellungen (PPN619875259)	de
dc.subject.gokfull	Anatomie / Histologie / Embryologie / Medizinische Anthropologie - Allgemein- und Gesamtdarstellungen (PPN619875208)	de
dc.description.embargoed	2021-08-12
dc.identifier.ppn	176313265X

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