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Ts65Dn -- localization of the translocation breakpoint and trisomic gene content in a mouse model for Down syndrome.
Akeson, E C; Lambert, J P; Narayanswami, S; Gardiner, K; Bechtel, L J; Davisson, M T.
Afiliación
  • Akeson EC; The Jackson Laboratory, Bar Harbor ME 04609, USA.
Cytogenet Cell Genet ; 93(3-4): 270-6, 2001.
Article en En | MEDLINE | ID: mdl-11528125
Fluorescent in situ hybridization (FISH) -- using mouse chromosome paints, probes for the mouse major centromeric satellite DNA, and probes for genes on chromosomes (Chr) 16 and 17 -- was employed to locate the breakpoint in a translocation used to produce a mouse model for Down syndrome. The Ts65Dn trisomy is derived from the reciprocal translocation T(16;17)65Dn. The Ts65Dn mouse carries a marker chromosome containing the distal segment of Chr 16, a region that shows linkage conservation with human Chr 21, and the proximal end of Chr 17. This chromosome confers trisomy for most of the genes in the Chr 16 segment and Ts65Dn mice show many of the phenotypic features characteristic of Down syndrome. We used FISH on metaphase chromosomes from translocation T65Dn/+ heterozygotes and Ts65Dn mice to show that the Chr 17 breakpoint is distal to the heterochromatin of Chr 17, that the Ts65Dn marker chromosome contains a small portion of Chr 17 euchromatin, that the Chr 16 breakpoint lies between the Ncam2 and Gabpa/App genes, and that the Ts65Dn chromosome contains >80% of the human Chr 21 homologs. The significance of this finding is discussed in terms of the utility of this mouse model.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Cromosomas / Síndrome de Down / Rotura Cromosómica / Mapeo Físico de Cromosoma / Molécula L1 de Adhesión de Célula Nerviosa / Modelos Animales de Enfermedad Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Cytogenet Cell Genet Año: 2001 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Cromosomas / Síndrome de Down / Rotura Cromosómica / Mapeo Físico de Cromosoma / Molécula L1 de Adhesión de Célula Nerviosa / Modelos Animales de Enfermedad Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Cytogenet Cell Genet Año: 2001 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza