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Establishment of new murine embryonic stem cell lines for the generation of mouse models of human genetic diseases BJMBR
Sukoyan,M.A.; Kerkis,A.Y.; Mello,M.R.B.; Kerkis,I.E.; Visintin,J.A.; Pereira,L.V..
Embryonic stem cells are totipotent cells derived from the inner cell mass of blastocysts. Recently, the development of appropriate culture conditions for the differentiation of these cells into specific cell types has permitted their use as potential therapeutic agents for several diseases. In addition, manipulation of their genome in vitro allows the creation of animal models of human genetic diseases and for the study of gene function in vivo. We report the establishment of new lines of murine embryonic stem cells from preimplantation stage embryos of 129/Sv mice. Most of these cells had a normal karyotype and an XY sex chromosome composition. The pluripotent properties of the cell lines obtained were analyzed on the basis of their alkaline phosphatase...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Human genetic diseases; Murine embryonic stem cells; Mouse model; Transgenic mouse.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000500004
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The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18 Genet. Mol. Biol.
Silva Neto,Lino; Aghaie,Asadollah; Guénet,Jean-Louis; Godard,Ana Lúcia Brunialti.
The Paralysé mutation is a spontaneous neuromuscular mutation, first observed in 1980 at the Pasteur Institute, which is transmitted by the autosomal recessive par allele. Affected homozygote par/par mice rarely survive beyond 16 days of age and at the end of their life they are emaciated and completely paralyzed. Several concordant histological and physiological observations indicate that mutant mice might be good models for studying early-onset human motor neuron diseases such as spinal muscular atrophy. Linkage analysis using a set of molecular markers and two F2 crosses indicate that the mutation maps to mouse chromosome 18 in a region spanning 4 cM (or 9 megabase pairs, Mbp) between the microsatellites D18Mit140 and D18Mit33. These results positioned...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mouse model; Neuromuscular disease; Mouse genetic map; Paralysé mutation.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200003
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