BookAimin Liu, editor.
Summary: This book focuses on the use of animal models to study various human defects. It summarizes our current understanding of a variety of common human birth defects and the essential role of animal models in shedding light on the underlying mechanisms of these disorders. Birth defects are the leading cause of infant deaths, and cost billions of dollars in care for those affected. Unfortunately, the lack of a clear understanding of the mechanisms leading to many of these developmental disorders has hindered effective prevention and early intervention strategies. Studies using animal models have provided essential insights into several human birth defects. This book serves as a valuable reference resource for researchers and graduate students who are interested in learning the basic principles as well as the latest advances in the study of the mechanisms of human birth defects.
Contents:
Intro
Preface
Contents
1: A History of Mouse Genetics: From Fancy Mice to Mutations in Every Gene
1.1 Overview
1.2 Establishing the Mouse as a Mammalian Model for Research
1.2.1 Mendelian Genetics in Mice
1.2.2 Inbred Mouse Strains
1.3 Getting to Know the Mouse Genome: From Inbred Lines to Genetic Maps
1.3.1 Inbred and Congenic Strains
1.3.2 The Origins of Developmental Genetics
1.3.3 Linkage Analysis, Complementation Tests, and Recombination Maps
1.3.4 Cytogenetics: Chromosomal Maps and Rearrangements 1.3.5 Improving Linkage Maps: New Markers, Recombinant Inbred Lines, and Interspecific Backcrosses
1.3.6 From Linkage Maps to Physical Maps
1.4 The Molecular Biology Revolution and Mouse Genetics
1.5 Manipulating the Mouse Genome: Making Mutants
1.5.1 The Power of Mutagens
1.5.2 Transgenesis: Introducing Exogenous DNA in the Mouse Genome
1.5.3 Targeted Mutagenesis Through Homologous Recombination
1.5.4 Genome Engineering with Endonucleases: CRISPR/Cas9 Engineering
1.6 The Mouse Genome Sequence 1.7 A Mutant in Every Gene: Large-Scale Approaches to Study Gene Function
1.7.1 Forward Mutagenesis Screens and Positional Cloning
1.7.2 Gene-Trap Mutagenesis Screens
1.7.3 The International Knockout and Phenotyping Consortia
1.8 Future Perspectives
References
2: Mouse Models of Neural Tube Defects
2.1 Overview
2.2 Types of NTDs
2.3 Diagnosis and Treatment of NTDs
2.4 The Etiology of NTDs
2.5 NTDs Result from Failure of Neural Tube Closure
2.6 Mouse Models Have Been Instrumental in Elucidating the Mechanics of Neural Tube Closure 2.7 Convergent Extension Movements and the Planar Cell Polarity Pathway
2.8 Hinge Point Formation
2.9 Apical Constriction Is Coordinated with PCP Activation in the Neural Plate
2.10 Formation of Hinge Points Is Regulated by Shh and BMPs
2.11 PCP, Ciliogenesis, and Shh Signaling
2.12 Role of the Nonneural Ectoderm in Neural Fold Elevation and Fusion
2.13 Prevention of NTDs by Micronutrient Supplementation
2.14 Mechanisms by Which Folic Acid Prevents NTDs
2.15 Folate is a Cofactor Required for Synthesis of DNA, Amino Acid and Methyl Donors 2.16 Folate and Homocysteine
2.17 Studies in Mice Suggest Supplementation with Inositol or Formate May Prevent Folate-Resistant NTDs
2.18 Future Directions
References
3: Animal Models of Pancreas Development, Developmental Disorders, and Disease
3.1 Overview
3.2 Introduction
3.2.1 Overview of Pancreas Development
3.2.2 Molecular Regulation of Pancreas Development
3.2.3 Developmental Defects and Their Impact on Pancreatic Function and Disease
3.3 Juvenile and Adult Diseases of the Pancreas
3.3.1 Type 1 Diabetes Mellitus (T1DM) 3.3.2 Type 2 Diabetes Mellitus (T2DM)