ArticleMammalian genome : official journal of the International Mammalian Genome Society2005
A deletion causing spontaneous fracture identified from a candidate region of mouse Chromosome 14.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
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- The Roles and Mechanisms of Actions of Vitamin C in Bone: New Developments.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Review
- Effect of fluorosis on liver cells of VC deficient and wild type mice.TheScientificWorldJournal · 2014Article
- Current limitations of murine models in oncology for ascorbate research.Frontiers in oncology · 2014Review
- Genome wide analysis of sex difference in gene expression profiles of bone formations using sfx mice and BXD RI strains.TheScientificWorldJournal · 2014Article
- Genome-wide gene expression profiles in antioxidant pathways and their potential sex differences and connections to vitamin C in mice.International journal of molecular sciences · 2013Article
- Differential gene expression between wild-type and Gulo-deficient mice supplied with vitamin C.Genetics and molecular biology · 2011Article
- Ascorbic acid regulates osterix expression in osteoblasts by activation of prolyl hydroxylase and ubiquitination-mediated proteosomal degradation pathway.Physiological genomics · 2011Article
- An insertion of intracisternal A-particle retrotransposon in a novel member of the phosphoglycerate mutase family in the lew allele of mutant mice.Genes & genetic systems · 2009Article
- A deletion mutation in Slc12a6 is associated with neuromuscular disease in gaxp mice.Genomics · 2008Article
- A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice.BMC genetics · 2007Article
- Evaluation of gene expression profiling in a mouse model of L-gulonolactone oxidase gene deficiency.Genetics and molecular biology · 2007Article
- Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.Genetics · 2005Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Map-based cloning is an iterative approach that identifies the underlying genetic cause of a mutant phenotype. However, the classic protocol of positional cloning is time-consuming and labor-intensive. We now describe a genome sequence-based cloning approach that has led to localizing the underlying genetic cause of spontaneous fractures (sfx) in a mouse model. The sfx/sfx mouse is characterized by a spontaneous femoral fracture seen around 6 weeks of age, which represents a new mouse model for bone fragility. Genetic studies indicate that the phenotype of sfx/sfx mice is caused by an alteration at a single locus that is roughly mapped onto the central region of mouse Chromosome 14. Using our strategy of combining mouse genome resources and high-throughput technology, we discovered a deletion of all 12 exons in the gene for L-gulonolactone oxidase (LGO), a key enzyme in the synthesis of ascorbic acid. We have also examined the expression of LGO and found no expression of LGO in sfx mice while the LGO expresses in several tissues of normal mice. Our data demonstrated the feasibility to positionally clone the mutated gene from a non-fine-mapped locus, which has applicability to the positional cloning of genes from many other animal models, as their genome sequences are sequenced or will be sequenced soon.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.