The integrity of basal forebrain neurons depends on permanent expression of Nkx2-1: potential for understanding haploinsufficiency in humans [Elektronische Ressource] / von Lorenza Magno

Aus dem Institut für Zell- und Neurobiologieder Medizinischen Fakultät Charité – Universitätsmedizin BerlinDISSERTATIONThe integrity of basal forebrain neurons depends on permanentexpression of Nkx2-1: potential for understandinghaploinsufficiency in humans.zur Erlangung des akademischen GradesDoctor of Philosophy in Medical Neurosciences(PhD in Medical Neurosciences)vorgelegt der Medizinischen FakultätCharité – Universitätsmedizin BerlinvonLorenza Magnoaus BergamoGutachter/in: 1. Priv.-Doz. Dr. Med. T. Naumann2. Prof. Dr. H.-D. Hofmann3. Prof. Dr. H. SchweglerDatum der Promotion: 01.11.2010CONTENTS CONTENTS I LIST OF IGURES V ABBREVIATIONS VI 1. INTRODUCTION…………………………………………………………………….1 1.1. Brain-thyroid-lung syndrome: a mysterious disease emerging in postnatal life… 1 1.2. Nkx2-1 protein and gene.……………………………………………………….. 2 1.3. Expression of Nkx2-1……………………………………………………………. 4 1.3.1. Prenatal expression………………………………………………………… 4 1.3.2. Postnatal expression……………………………………………………….. 6 1.4. Cellular expression of Nkx2-1 in the telencephalon…………………………….. 8 1.5. Aim of the study…………………………………………………………………..10 2. MATERIALS AND METHODS…………………………………………………….. 12 2.1. Mouse lines and strains, generation of conditional mice and genotyping……….12 2.1.1. Animals………………………………………………………………......... 12 2.1.2. Transgenic lines……………………………………………………..………12 2.1.3. Genotyping…………………………………………………………..…….. 14 2.2.