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Mouse Models in the Study of Genetic Neurological Disorders : Advances in Neurochemistry - Brian Popko

Mouse Models in the Study of Genetic Neurological Disorders

Advances in Neurochemistry

By: Brian Popko (Editor)

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Published: February 1999
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This volume covers the use of animal models for human genetic disease, including models of developmental disorders, neuromuscular diseases, neurodegenerative diseases and learning disorders. Researchers who study these disorders will find this volume a useful resource.

An Overview of Mouse Models in Neuroscience Research
Introductionp. 1
Naturally Occurring Mouse Modelsp. 2
Transgenic Modelsp. 5
Gene Targeting in Embryonic Stem Cellsp. 7
Future Directionsp. 9
Single-Copy Transgenic Mice with Chosen Site of Integrationp. 10
Inducible Transgene Expressionp. 13
Cre/loxPp. 14
Point Mutationsp. 14
Summaryp. 15
Referencesp. 15
X-Linked Dysmyelination: Mouse Models of Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease and X-Linked Spastic Paraplegiap. 26
Myelin Proteolipid Protein (PLP/DM20)p. 27
Myelin Defects in jimpy and rumpshaker Micep. 29
Cellular Consequences: From Genotype to Phenotypep. 30
Studying PLP Mutations In Vitrop. 32
PLP Transgenic Micep. 32
PLP "Knockout" Micep. 35
Acknowledgmentsp. 38
Referencesp. 38
Charcot-Marie-Tooth Disease: Pathology, Genetics, and Animal Models
Introductionp. 43
Charcot-Marie-Tooth Diseasep. 44
Clinical Evaluation, Electrophysiology, and Neuropathologyp. 44
Geneticsp. 46
Animal Models for Charcot-Marie-Tooth Diseasep. 47
Animal Models for Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsiesp. 48
Animal Models for Charcot-Marie-Tooth Disease Type 1Bp. 53
Animal Models for X-Linked Charcot-Marie-Tooth Diseasep. 54
Summary and Outlookp. 55
Acknowledgmentsp. 56
Referencesp. 56
Mouse Mutations in the Study of Cerebellar Development
Cerebellar Developmentp. 63
Cerebellar Cytoarchitecturep. 63
Early Developmental Eventsp. 65
Cerebellar Mouse Mutantsp. 67
Patterning Mutationsp. 69
Migration Mutationsp. 72
Differentiation Mutationsp. 79
Transgenic or Targeted Deletion Lines with Cerebellar Phenotypesp. 84
Conclusionsp. 86
Acknowledgmentsp. 87
Referencesp. 87
The Role of Neurotrophic Factors in Development and Neurodegenerative Disorders
Introductionp. 99
Historical Reviewp. 100
The NGF and GDNF Families of Neurotrophic Factorsp. 100
Regulation of Specific Populations of Peripheral Neurons by Neurotrophin and GDNF Family Membersp. 103
Hereditary Conditions Associated with Growth Factor Receptor Mutationsp. 107
Multiple Trophic Factors Regulate the Development of Some Peripheral Neuronsp. 108
Regulation of Survival of CNS Neuronsp. 109
Conclusionsp. 112
Referencesp. 113
Transgenic Mice with Neurofilament Abnormalities
Introductionp. 119
Neurofilament Structure and Functionp. 120
Transgenic Mouse Models with Neurofilament Accumulationsp. 122
Defective Axonal Transport in NF-H Transgenic Micep. 125
Factors that Can Potentially Induce the Accumulation of Neurofilamentsp. 127
A Link between SOD1 and Neurofilaments?p. 130
Prospectsp. 131
Acknowledgmentsp. 132
Referencesp. 132
Mouse Models of Amyotrophic Lateral Sclerosis
SOD1 Activity and ALSp. 138
Transgenic Mouse Models Reveal SOD1 Mutations Cause Disease from a Novel Toxic Property, Not Loss of Activityp. 139
Complete Deletion of the SOD1 Gene Does Not Cause Motor Neuron Disease in Micep. 141
Identifying the Toxic Property of the FALS-Linked SOD1 Mutants: An Aberrant Property of One FALS-Linked SOD1 Mutant Is a Catalyzed Increase in Nitrotyrosinep. 142
Toxicity from a Familial ALS-Linked SOD1 Mutant Is Independent of SOD1 Activity and Wild Type SOD1 Protein and Is Not Alleviated by Raising SOD1 Activityp. 144
Linking Motor Neuron Growth and Death: Neurofilaments, Axonal Disorganization, and Motor Neuron Diseasep. 145
Mutations in Neurofilaments Can Cause ALS-like Disease in Micep. 146
Neurofilaments and SOD1 Mutant-Mediated Disease: Absence of Neurofilaments or Increased Perikaryal Levels of Neurofilaments Slows SOD1-Mediated Disease in Micep. 149
Axonal Transportp. 150
Neurotrophic Factors, Bcl-2, and Apoptosisp. 151
Pmn Mice, wobbler Mice, and CNTF/GDNFp. 151
Pmn and wobbler Mice and Bcl-2p. 152
FALS-Linked SOD1 Mice and Apoptosis Inhibitorsp. 152
Glutamate Excitotoxicityp. 153
Summary/Conclusionsp. 154
Referencesp. 156
Transgenic Mouse Models of Cag Trinucleotide Repeat Neurologic Diseases
Introductionp. 163
Pathology and Neurological Alteration in Transgenic Mice with Expanded CAG Tractsp. 164
Spinal and Bulbar Muscular Atrophyp. 168
Machado-Joseph Disease/Spinocerebellar Ataxia Type 3p. 169
Huntington Diseasep. 170
Spinocerebellar Ataxia Type 1p. 174
CAG Repeat Instability in Transgenic Micep. 178
Conclusions and Closing Commentsp. 179
Referencesp. 181
Alzheimer's Disease and Genetically Engineered Animal Models
Introductionp. 187
Alzheimer's Diseasep. 189
Clinical Syndromep. 189
Neuropathologyp. 189
Principal Risk Factorsp. 193
Genesp. 193
Agep. 197
Genetically Engineered Animal Modelsp. 198
Transgenic Micep. 198
Gene-Targeted Micep. 200
Conclusionsp. 201
Acknowledgmentsp. 202
Referencesp. 202
Model of Genetic Susceptibility to Late-Onset Alzheimer's Disease: Mice Transgenic for Human Apolipoprotein E Alleles
Genetic Classification of ADp. 216
APOE Susceptibility Gene for ADp. 216
APOE in the Peripheryp. 218
APOE in the Central Nervous Systemp. 219
APOE in the Peripheral Nervous Systemp. 220
APOE and Pathogenesis of AD--Extracellular Rolep. 220
APOE and Pathogenesis of AD--Intracellular Rolep. 222
Human Pattern of Neuronal and Glial Localization of APOEp. 223
Apolipoprotein E and Oxidative Injuryp. 224
Genetic Models of APOE as a Susceptibility Gene in ADp. 224
APOE Gene Inactivation Modelp. 225
Consideration of Genetic Background in Analysis of APOE "Knockouts" and Transgenesp. 226
APOE Transgenic Model with Human Regulatory Sequencesp. 228
APOE Transgenic Model with Nonhuman Regulatory Sequencesp. 234
APOE Targeted Replacement Animalsp. 234
Current Models for the Effect of APOE Alleles on Susceptibility to ADp. 234
Summary/Conclusionsp. 236
Acknowledgmentsp. 236
Referencesp. 236
Lysosomal Disorders
Introductionp. 245
Naturally Occurring Mouse Modelsp. 246
Twitcher Mousep. 246
[beta]-Glucuronidase Deficiencyp. 248
Niemann-Pick Type C Mousep. 249
Artificially Generated Mouse Modelsp. 251
Models of Known Human Lysosomal Disordersp. 251
Lysosomal Disorders Not Known in Humansp. 269
Utility of Experimental Animal Modelsp. 269
For Studies of Pathogenetic Mechanismsp. 269
For Therapeutic Trialsp. 271
On the Horizonp. 274
Acknowledgmentsp. 274
Referencesp. 275
Neurological Implications of the Genetic Mouse Models for Human Phenylketonuria and Hyperphenylalaninemia
Introductionp. 285
Earlier Efforts to Produce Mouse PKU Modelsp. 287
The Genetic PKU Mouse Programp. 288
Future Studies Enabled by the Genetic Mouse Model for Human PKUp. 291
Referencesp. 291
Mouse Models of Down Syndrome
Introductionp. 297
Location of Human Chromosome 21 Genes in the Mouse Genomep. 299
History of Mouse Trisomy Models for DSp. 303
Mental Retardation and Neurological Deficitsp. 305
Down Syndromep. 305
Trisomy 16 (Ts16) in Micep. 306
Segmental Ts16p. 310
Transgenic Micep. 315
Genetic Background Effectsp. 318
Summaryp. 319
Acknowledgmentsp. 320
Referencesp. 320
Modeling Epileptic Disorders in Mice
Introductionp. 329
Monogenic Epilepsy Models in Micep. 330
Tottering and Leanerp. 331
Lethargic and Stargazerp. 331
Weaverp. 332
Lurcherp. 333
Slow-Wave Epilepsyp. 333
Epilepsy Models Associated with Inherited Myelin Defectsp. 334
Epilepsy Models Arising from Gene Disruptionsp. 335
Epilepsy Models Arising from Abnormal Cortical Developmentp. 338
Analysis of Monogenic Epilepsy Modelsp. 338
Multifactorial Epilepsy Models in Micep. 339
Epileptiformp. 339
SWXL-4p. 340
ELp. 340
Audiogenic Seizuresp. 346
Genetic Models of Spontaneous Lethal Epilepsies and Status Epilepticusp. 350
Mapping Epilepsy Genes in the Human and the Mousep. 350
Acknowledgmentsp. 351
Referencesp. 351
Indexp. 361
Table of Contents provided by Syndetics. All Rights Reserved.

ISBN: 9780306459658
ISBN-10: 0306459655
Series: Advances in Neurochemistry
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 366
Published: February 1999
Publisher: Springer Science+Business Media
Country of Publication: US
Dimensions (cm): 23.5 x 15.5  x 3.05
Weight (kg): 0.78