Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. (Articolo in rivista)

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  • Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s00335-010-9262-x (literal)
Alternative label
  • Yu T(1,2); Clapcote SJ(3); Li Z(1,2); Liu C(1,2); Pao A(1,2); Bechard AR(4); Carattini-Rivera S(5); Matsui S(1,2); Roder JC(4); Baldini A(6); Mobley WC(7); Bradley A(8); Yu YE(1,2) (2010)
    Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.
    in Mammalian genome (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Yu T(1,2); Clapcote SJ(3); Li Z(1,2); Liu C(1,2); Pao A(1,2); Bechard AR(4); Carattini-Rivera S(5); Matsui S(1,2); Roder JC(4); Baldini A(6); Mobley WC(7); Bradley A(8); Yu YE(1,2) (literal)
Pagina inizio
  • 258 (literal)
Pagina fine
  • 267 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.springerlink.com/content/k650j7u883460428/fulltext.pdf (literal)
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  • 21 (literal)
Rivista
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  • PMID:20512340 (literal)
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  • 10 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. Roswell Pk Canc Inst, Genet Program, Buffalo, NY 14263 USA 2. Roswell Pk Canc Inst, Dept Canc Genet, Buffalo, NY 14263 USA 3. Univ Leeds, Inst Membrane & Syst Biol, Leeds LS2 8JT, W Yorkshire, England 4. Univ Toronto, Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada 5. Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA 6. Texas A&M Univ, Hlth Sci Ctr, Inst Biosci & Technol, Houston, TX 77030 USA 7. Univ Calif San Diego, Dept Neurosci, Sch Med, La Jolla, CA 92093 USA 8. Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England (literal)
Titolo
  • Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. (literal)
Abstract
  • Copy-number variation in the human genome can be disease-causing or phenotypically neutral. This type of genetic rearrangement associated with human chromosome 21 (Hsa21) underlies partial Monosomy 21 and Trisomy 21. Mental retardation is a major clinical manifestation of partial Monosomy 21. To model this human chromosomal deletion disorder, we have generated novel mouse mutants carrying heterozygous deletions of the 2.3- and 1.1-Mb segments on mouse chromosome 10 (Mmu10) and Mmu17, respectively, which are orthologous to the regions on human 21q22.3, using Cre/loxP-mediated chromosome engineering. Alterations of the transcriptional levels of genes within the deleted intervals reflect gene-dosage effects in the mutant mice. The analysis of cognitive behaviors shows that the mutant mice carrying the deletion on either Mmu10 or Mmu17 are impaired in learning and memory. Therefore, these mutants represent mouse models for Monosomy 21-associated mental retardation, which can serve as a powerful tool to study the molecular mechanism underlying the clinical phenotype and should facilitate efforts to identify the haploinsufficient causative genes. (literal)
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