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Disruption of the mouse L1 gene leads to malformations of the nervous system

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Disruption of the mouse L1 gene leads to malformations of the nervous system. / Dahme, M; Bartsch, U; Martini, R; Anliker, B; Schachner, M; Mantei, N.

in: NAT GENET, Jahrgang 17, Nr. 3, 11.1997, S. 346-9.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Dahme, M, Bartsch, U, Martini, R, Anliker, B, Schachner, M & Mantei, N 1997, 'Disruption of the mouse L1 gene leads to malformations of the nervous system', NAT GENET, Jg. 17, Nr. 3, S. 346-9. https://doi.org/10.1038/ng1197-346

APA

Dahme, M., Bartsch, U., Martini, R., Anliker, B., Schachner, M., & Mantei, N. (1997). Disruption of the mouse L1 gene leads to malformations of the nervous system. NAT GENET, 17(3), 346-9. https://doi.org/10.1038/ng1197-346

Vancouver

Dahme M, Bartsch U, Martini R, Anliker B, Schachner M, Mantei N. Disruption of the mouse L1 gene leads to malformations of the nervous system. NAT GENET. 1997 Nov;17(3):346-9. https://doi.org/10.1038/ng1197-346

Bibtex

@article{904ed259660f4130a25eb8784b30638e,
title = "Disruption of the mouse L1 gene leads to malformations of the nervous system",
abstract = "The adhesion molecule L1 is a member of the immunoglobulin superfamily. L1 is involved in various recognition processes in the CNS and PNS, and binding to L1 can activate signal transduction pathways. Mutations in the human L1 gene are associated with a variable phenotype, including mental retardation and anomalous development of the nervous system, referred to as 'CRASH' (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). We generated an animal model of these conditions by gene targetting. Mutant mice were smaller than wild-type and were less sensitive to touch and pain, and their hind-legs appeared weak and uncoordinated. The size of the corticospinal tract was reduced and, depending on genetic background, the lateral ventricles were often enlarged. Non-myelinating Schwann cells formed processes not associated with axons and showed reduced association with axons. In vitro, neurite outgrowth on an L1 substrate and fasciculation were impaired. The mutant mouse described here will help to elucidate the functions of L1 in the nervous system and how these depend on genetic influences.",
keywords = "Animals, Animals, Newborn, Axons, Blotting, Northern, Body Weight, Brain, Cerebellar Cortex, Cerebral Ventricles, Disease Models, Animal, Female, Leukocyte L1 Antigen Complex, Male, Membrane Glycoproteins, Mice, Mice, Inbred C57BL, Mice, Transgenic, Nervous System, Neurons, Spinal Cord, Journal Article, Research Support, Non-U.S. Gov't",
author = "M Dahme and U Bartsch and R Martini and B Anliker and M Schachner and N Mantei",
year = "1997",
month = nov,
doi = "10.1038/ng1197-346",
language = "English",
volume = "17",
pages = "346--9",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "3",

}

RIS

TY - JOUR

T1 - Disruption of the mouse L1 gene leads to malformations of the nervous system

AU - Dahme, M

AU - Bartsch, U

AU - Martini, R

AU - Anliker, B

AU - Schachner, M

AU - Mantei, N

PY - 1997/11

Y1 - 1997/11

N2 - The adhesion molecule L1 is a member of the immunoglobulin superfamily. L1 is involved in various recognition processes in the CNS and PNS, and binding to L1 can activate signal transduction pathways. Mutations in the human L1 gene are associated with a variable phenotype, including mental retardation and anomalous development of the nervous system, referred to as 'CRASH' (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). We generated an animal model of these conditions by gene targetting. Mutant mice were smaller than wild-type and were less sensitive to touch and pain, and their hind-legs appeared weak and uncoordinated. The size of the corticospinal tract was reduced and, depending on genetic background, the lateral ventricles were often enlarged. Non-myelinating Schwann cells formed processes not associated with axons and showed reduced association with axons. In vitro, neurite outgrowth on an L1 substrate and fasciculation were impaired. The mutant mouse described here will help to elucidate the functions of L1 in the nervous system and how these depend on genetic influences.

AB - The adhesion molecule L1 is a member of the immunoglobulin superfamily. L1 is involved in various recognition processes in the CNS and PNS, and binding to L1 can activate signal transduction pathways. Mutations in the human L1 gene are associated with a variable phenotype, including mental retardation and anomalous development of the nervous system, referred to as 'CRASH' (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). We generated an animal model of these conditions by gene targetting. Mutant mice were smaller than wild-type and were less sensitive to touch and pain, and their hind-legs appeared weak and uncoordinated. The size of the corticospinal tract was reduced and, depending on genetic background, the lateral ventricles were often enlarged. Non-myelinating Schwann cells formed processes not associated with axons and showed reduced association with axons. In vitro, neurite outgrowth on an L1 substrate and fasciculation were impaired. The mutant mouse described here will help to elucidate the functions of L1 in the nervous system and how these depend on genetic influences.

KW - Animals

KW - Animals, Newborn

KW - Axons

KW - Blotting, Northern

KW - Body Weight

KW - Brain

KW - Cerebellar Cortex

KW - Cerebral Ventricles

KW - Disease Models, Animal

KW - Female

KW - Leukocyte L1 Antigen Complex

KW - Male

KW - Membrane Glycoproteins

KW - Mice

KW - Mice, Inbred C57BL

KW - Mice, Transgenic

KW - Nervous System

KW - Neurons

KW - Spinal Cord

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1038/ng1197-346

DO - 10.1038/ng1197-346

M3 - SCORING: Journal article

C2 - 9354804

VL - 17

SP - 346

EP - 349

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 3

ER -