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| http://purl.uniprot.org/citations/10608859 | http://www.w3.org/2000/01/rdf-schema#comment | "We utilized the Cre/lox recombination system to develop the first knock-in murine model for osteogenesis imperfecta (OI). The moderately severe OI phenotype was obtained from an alpha1(I) Gly(349) --> Cys substitution in type I collagen, reproducing the mutation in a type IV OI child. We introduced four single nucleotide (nt) changes into murine col1a1 exon 23: the disease causing G-->T transversion (nt 1546), an adjacent G-->T change (nt 1551) to generate a GUC ribozyme cleavage site, and two transversions (nt 1567 C-->A and nt 1569 C-->G) to cause a Leu --> Met substitution. We also introduced a 3.2-kilobase pair transcription/translation stop cassette in intron 22, flanked by directly repeating lox recombination sites. After homologous recombination in ES cells, two male chimeras were obtained. Chimeras were mated with transgenic females expressing Cre recombinase to remove the stop cassette from a portion of the progeny's cells. To generate mice with full expression of the Gly(349) --> Cys mutation, these offspring were then mated with wild-type females. Skeletal staining and bone histology of the F2 revealed a classical OI phenotype with deformity, fragility, osteoporosis and disorganized trabecular structure. We designate these mice BrtlIV (Brittle IV). BrtlIV mice have phenotypic variability ranging from perinatal lethality to long term survival with reproductive success. The phenotypic variability is not associated with differences in expression levels of the mutant allele in total RNA derived from tissue extracts. Expression of the mutant protein is also equivalent in different phenotypes. Thus, these mice are an excellent model for delineation of the modifying factors postulated to affect human OI phenotypes. In addition, we generated knock-in mice carrying an "intronic" inclusion by mating chimeras with wild-type females. Alternative splicing involving the stop cassette results in retention of non-collagenous sequences. These mice reproduce the lethal phenotype of similar human mutations and are designated BrtlII."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.274.53.37923"xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/author | "Lee E.J."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/author | "Westphal H."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/author | "Marini J.C."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/author | "Forlino A."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/author | "Porter F.D."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/name | "J Biol Chem"xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/pages | "37923-37931"xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/title | "Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice."xsd:string |
| http://purl.uniprot.org/citations/10608859 | http://purl.uniprot.org/core/volume | "274"xsd:string |
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