Mouse Models of Hereditary Mental Retardation

[1]  I. Weiler,et al.  Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[2]  M. Koch,et al.  Impairment of sensorimotor gating in mice deficient in the cell adhesion molecule L1 or its close homologue, CHL1 , 2004, Brain Research.

[3]  Thomas Raabe,et al.  The S6KII (rsk) Gene of Drosophila melanogaster Differentially Affects an Operant and a Classical Learning Task , 2004, The Journal of Neuroscience.

[4]  H. Zoghbi,et al.  Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. , 2004, Human molecular genetics.

[5]  H. Lipp,et al.  Midlatency auditory event-related potentials in mice: comparison to midlatency auditory ERPs in humans , 2004, Brain Research.

[6]  I. Jo,et al.  Long-Term Enzymatic and Phenotypic Correction in the Phenylketonuria Mouse Model by Adeno-Associated Virus Vector-Mediated Gene Transfer , 2004, Pediatric Research.

[7]  D. Nelson,et al.  Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. , 2004, Human molecular genetics.

[8]  H. Mizukami,et al.  Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice , 2004, Gene Therapy.

[9]  R. Jaenisch,et al.  Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[10]  Alcino J. Silva,et al.  Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice , 2004, Molecular Psychiatry.

[11]  H. Lipp,et al.  Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1 , 2004, The European journal of neuroscience.

[12]  C. Akerman,et al.  The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis , 2004, Nature Neuroscience.

[13]  D. Gutmann,et al.  Recent advances in neurofibromatosis type 1 , 2004, Current opinion in neurology.

[14]  Juan I. Young,et al.  X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. , 2004, American journal of human genetics.

[15]  A. E. Wiencken-barger,et al.  The role of L1 in axon pathfinding and fasciculation. , 2004, Cerebral cortex.

[16]  Andrea Beckel-Mitchener,et al.  Correlates across the structural, functional, and molecular phenotypes of fragile X syndrome. , 2004, Mental retardation and developmental disabilities research reviews.

[17]  V. Regitz-Zagrosek,et al.  The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies , 2004, Human Genetics.

[18]  M. Schachner,et al.  Decreased Anxiety, Altered Place Learning, and Increased CA1 Basal Excitatory Synaptic Transmission in Mice with Conditional Ablation of the Neural Cell Adhesion Molecule L1 , 2003, The Journal of Neuroscience.

[19]  D. Nelson,et al.  FMR2 function: insight from a mouse knockout model , 2003, Cytogenetic and Genome Research.

[20]  O. Stork,et al.  Cell adhesion molecules: key players in memory consolidation? , 2003, News in physiological sciences : an international journal of physiology produced jointly by the International Union of Physiological Sciences and the American Physiological Society.

[21]  David P. Wolfer,et al.  Does cAMP Response Element-Binding Protein Have a Pivotal Role in Hippocampal Synaptic Plasticity and Hippocampus-Dependent Memory? , 2003, The Journal of Neuroscience.

[22]  J. Flier,et al.  Insulin resistance and lipodystrophy in mice lacking ribosomal S6 kinase 2. , 2003, Diabetes.

[23]  S. Cabib,et al.  The Behavioral Profile of Severe Mental Retardation in a Genetic Mouse Model of Phenylketonuria , 2003, Behavior genetics.

[24]  H. Van Esch,et al.  Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation , 2003, Journal of medical genetics.

[25]  H. Lipp,et al.  Intact spatial memory in mice with seizure-induced partial lossof hippocampal pyramidal neurons , 2003, Neurobiology of Disease.

[26]  J. Schouenborg,et al.  Heat nociception is severely reduced in a mutant mouse deficient for the L1 adhesion molecule , 2003, Brain Research.

[27]  S. Kahler,et al.  Metabolic disorders and mental retardation , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.

[28]  D. Gutmann,et al.  Neurofibromatosis 1: closing the GAP between mice and men. , 2003, Current opinion in genetics & development.

[29]  Lorenzo Pavone,et al.  Epilepsy in fragile X syndrome , 2002, Brain and Development.

[30]  H. Zoghbi,et al.  Rett syndrome and MeCP2: linking epigenetics and neuronal function. , 2002, American journal of human genetics.

[31]  C. B. Smith,et al.  Increased rates of cerebral glucose metabolism in a mouse model of fragile X mental retardation , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[32]  A. Hanauer,et al.  Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. , 2002, Human molecular genetics.

[33]  P. Chapman,et al.  Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. , 2002, Human molecular genetics.

[34]  A. Hanauer,et al.  Coffin-Lowry syndrome: clinical and molecular features , 2002, Journal of medical genetics.

[35]  Juan I. Young,et al.  Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3 , 2002, Neuron.

[36]  R. Stevenson,et al.  AGTR2 Mutations in X-Linked Mental Retardation , 2002, Science.

[37]  A. Gal,et al.  The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment , 2002, Cytogenetic and Genome Research.

[38]  Robert L. Schalock,et al.  Mental Retardation: Definition, Classification, and Systems of Supports. 10th Edition. , 2002 .

[39]  Mark F. Bear,et al.  Altered synaptic plasticity in a mouse model of fragile X mental retardation , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[40]  J. Rawlins,et al.  Hippocampal cytotoxic lesion effects on species-typical behaviours in mice , 2002, Behavioural Brain Research.

[41]  R Plomin,et al.  Evidence for general cognitive ability (g) in heterogeneous stock mice and an analysis of potential confounds , 2002, Genes, brain, and behavior.

[42]  H. Zoghbi,et al.  Impaired Conditioned Fear and Enhanced Long-Term Potentiation inFmr2 Knock-Out Mice , 2002, The Journal of Neuroscience.

[43]  D. Nelson,et al.  Knockout mouse model for Fxr2: a model for mental retardation. , 2002, Human molecular genetics.

[44]  Darci M. Nielsen,et al.  Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome , 2002, Brain Research.

[45]  P. Carlen,et al.  Reduced Cortical Synaptic Plasticity and GluR1 Expression Associated with Fragile X Mental Retardation Protein Deficiency , 2002, Molecular and Cellular Neuroscience.

[46]  Alcino J. Silva,et al.  Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1 , 2002, Nature.

[47]  B. Oostra,et al.  Instability of a (CGG)98 repeat in the Fmr1 promoter. , 2001, Human molecular genetics.

[48]  J. Gécz,et al.  Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator , 2001, Journal of Human Genetics.

[49]  L. Chen,et al.  Fragile X mice develop sensory hyperreactivity to auditory stimuli , 2001, Neuroscience.

[50]  Alcino J. Silva,et al.  Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1 , 2001, Nature Genetics.

[51]  R. Jaenisch,et al.  Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice , 2001, Nature Genetics.

[52]  U. Bartsch,et al.  Severe hydrocephalus in L1-deficient mice , 2001, Brain Research.

[53]  C. Schwartz,et al.  Mutations in the X‐linked RSK2 gene (RPS6KA3) in patients with Coffin‐Lowry syndrome , 2001, Human mutation.

[54]  Robert Plomin,et al.  The genetics of G in human and mouse , 2001, Nature Reviews Neuroscience.

[55]  D. Moller,et al.  Altered Extracellular Signal-Regulated Kinase Signaling and Glycogen Metabolism in Skeletal Muscle from p90 Ribosomal S6 Kinase 2 Knockout Mice , 2001, Molecular and Cellular Biology.

[56]  R. D'Hooge,et al.  Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice , 2000, Behavioural Brain Research.

[57]  T. Bliss,et al.  Long-term potentiation in mice lacking the neural cell adhesion molecule L1 , 2000, Current Biology.

[58]  S. Okuyama,et al.  Pain threshold, learning and formation of brain edema in mice lacking the angiotensin II type 2 receptor. , 2000, Life sciences.

[59]  T. Sasaki,et al.  Role of rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampal neurotransmission. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[60]  H. Ropers,et al.  Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation , 2000, Nature Genetics.

[61]  W. Brown,et al.  Fmr1 knockout mouse has a distinctive strain-specific learning impairment , 2000, Neuroscience.

[62]  P. Huttenlocher.  The neuropathology of phenylketonuria: human and animal studies , 2000, European Journal of Pediatrics.

[63]  J. Opitz,et al.  Sixty years of X-linked mental retardation: a historical footnote. , 2000, American journal of medical genetics.

[64]  Peter K. Todd,et al.  Sensory stimulation increases cortical expression of the fragile X mental retardation protein in vivo. , 2000, Brain research. Molecular brain research.

[65]  B. Oostra,et al.  Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. , 2000, Experimental cell research.

[66]  K. North.  Neurofibromatosis type 1. , 2000, American journal of medical genetics.

[67]  D. Toniolo,et al.  X-linked non-specific mental retardation. , 2000, Current opinion in genetics & development.

[68]  J. Langlois,et al.  An olfactory discrimination procedure for mice. , 2000, Journal of the experimental analysis of behavior.

[69]  D. Nelson,et al.  (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. , 2000, Human molecular genetics.

[70]  J. Gécz,et al.  The FMR2 gene, FRAXE and non‐specific X‐linked mental retardation: clinical and molecular aspects , 2000, Annals of human genetics.

[71]  Raffaele Ferri,et al.  Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome , 2000, Epilepsia.

[72]  S. T. Warren,et al.  Fragile X mouse: strain effects of knockout phenotype and evidence suggesting deficient amygdala function , 1999, Neuroscience.

[73]  A. Diamond,et al.  Cognitive Deficits in a Genetic Mouse Model of the Most Common Biochemical Cause of Human Mental Retardation , 1999, The Journal of Neuroscience.

[74]  G. Demyanenko,et al.  Abnormalities in Neuronal Process Extension, Hippocampal Development, and the Ventricular System of L1 Knockout Mice , 1999, The Journal of Neuroscience.

[75]  B. Oostra,et al.  Learning and memory in the FMR1 knockout mouse. , 1999, American journal of medical genetics.

[76]  S. Chaki,et al.  Anxiety-like behavior in mice lacking the angiotensin II type-2 receptor , 1999, Brain Research.

[77]  Andrea Menegon,et al.  Mutations in GDI1 are responsible for X-linked non-specific mental retardation , 1998, Nature Genetics.

[78]  J Sijbers,et al.  L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. , 1998, Human molecular genetics.

[79]  K. Davies,et al.  Expression of the murine homologue of FMR2 in mouse brain and during development. , 1998, Human molecular genetics.

[80]  O. Steward,et al.  No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile‐X mental retardation syndrome , 1998, Neuroreport.

[81]  S. Kenwrick,et al.  Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations , 1998, Current Opinion in Neurobiology.

[82]  H. Lipp,et al.  Increased flexibility and selectivity in spatial learning of transgenic mice ectopically expressing the neural cell adhesion molecule L1 in astrocytes , 1998, The European journal of neuroscience.

[83]  R. Guillery,et al.  Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1 , 1998, Current Biology.

[84]  M. Schachner,et al.  Disruption of the mouse L1 gene leads to malformations of the nervous system , 1997, Nature Genetics.

[85]  E. Fransen,et al.  L1-associated diseases: clinical geneticists divide, molecular geneticists unite. , 1997, Human molecular genetics.

[86]  M. Zerial,et al.  The diversity of Rab proteins in vesicle transport. , 1997, Current opinion in cell biology.

[87]  Paul W. Frankland,et al.  A mouse model for the learning and memory deficits associated with neurofibromatosis type I , 1997, Nature Genetics.

[88]  R. D'Hooge,et al.  Mildly impaired water maze performance in maleFmr1 knockout mice , 1997, Neuroscience.

[89]  E. Zackai,et al.  Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome , 1996, Nature.

[90]  R. D'Hooge,et al.  Transgenic mouse model for the fragile X syndrome. , 1996, American journal of medical genetics.

[91]  R. D'Hooge,et al.  Long-term potentiation in the hippocampus of fragile X knockout mice. , 1996, American journal of medical genetics.

[92]  T. Webb,et al.  Prevalence of fragile X syndrome. , 1996, Journal of medical genetics.

[93]  G. Barsh,et al.  Linkage mapping of the angiotensin AT2 receptor gene (Agtr2) to the mouse X chromosome. , 1995, Genomics.

[94]  B. Hogan,et al.  Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor , 1995, Nature.

[95]  M. Gassmann,et al.  Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice , 1995 .

[96]  Guy Nagels,et al.  Fmr1 knockout mice: A model to study fragile X mental retardation , 1994, Cell.

[97]  J. McDonald,et al.  Mouse models of human phenylketonuria. , 1993, Genetics.

[98]  K. Davies,et al.  Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation , 1993, Cell.

[99]  E. Eichler,et al.  Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat , 1993, Nature Genetics.

[100]  J. Gusella,et al.  Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments. , 1993, Human molecular genetics.

[101]  S. DeKosky,et al.  Regional distribution of neural cell adhesion molecule (N‐CAM) and L1 in human and rodent hippocampus , 1993, The Journal of comparative neurology.

[102]  R I Richards,et al.  Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n , 1991, Science.

[103]  J. Sutcliffe,et al.  Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.

[104]  J. McDonald,et al.  Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[105]  S. Bryson,et al.  Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. , 1987, American journal of mental retardation : AJMR.

[106]  Joseph P. Huston,et al.  Avoidance learning in rats devoid of the telencephalon plus thalamus , 1985, Behavioural Brain Research.

[107]  A A Borbély,et al.  The thalamic rat: general behavior, operant learning with rewarding hypothalamic stimulation, and effects of amphetamine. , 1974, Physiology & behavior.

[108]  M. Kohn,et al.  A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases , 2004, European Journal of Human Genetics.

[109]  C. Harding,et al.  State-of-the-art 2003 on PKU gene therapy. , 2004, Molecular genetics and metabolism.

[110]  Alcino J. Silva,et al.  Mouse models of neurofibromatosis type I: bridging the GAP. , 2003, Trends in molecular medicine.

[111]  I. Järvelä,et al.  Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation , 2003, Human Genetics.

[112]  Stephen T Warren,et al.  A decade of molecular studies of fragile X syndrome. , 2002, Annual review of neuroscience.

[113]  Wim E Crusio,et al.  Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse , 2002, Hippocampus.

[114]  R. Touraine,et al.  X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1) , 2002, European Journal of Human Genetics.

[115]  W. Greenough,et al.  Altered mossy fiber distributions in adult Fmr1 (FVB) knockout mice , 2002, Hippocampus.

[116]  A. Bird,et al.  A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome , 2001, Nature Genetics.

[117]  Donna R. Maglott,et al.  RefSeq and LocusLink: NCBI gene-centered resources , 2001, Nucleic Acids Res..

[118]  B. Oostra,et al.  Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development. , 1998, Endocrinology.

[119]  F. Tamanini,et al.  Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139)) , 1998 .

[120]  C. Scriver,et al.  The hyperphenylalaninemias of man and mouse. , 1994, Annual review of genetics.

[121]  B. Migeon,et al.  Biochemical and genetic aspects of mental retardation. , 1966, Annual Review of Medicine.