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Mouse mutants and phenotypes: accessing information for the study of mammalian gene function.

ABSTRACT: Recent advances in high-throughput gene targeting and conditional mutagenesis are creating new and powerful resources to study the in vivo function of mammalian genes using the mouse as an experimental model. Mutant ES cells and mice are being generated at a rapid rate to study the molecular and phenotypic consequences of genetic mutations, and to correlate these study results with human disease conditions. Likewise, classical genetics approaches to identify mutations in the mouse genome that cause specific phenotypes have become more effective. Here, we describe methods to quickly obtain information on what mutant ES cells and mice are available, including recombinase driver lines for the generation of conditional mutants. Further, we describe means to access genetic and phenotypic data that identify mouse models for specific human diseases.

SUBMITTER: Ringwald M

PROVIDER: S-EPMC3062719 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature

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Mouse mutants and phenotypes: accessing information for the study of mammalian gene function.

Ringwald Martin M Eppig Janan T JT

Methods (San Diego, Calif.) 20101223 4

Recent advances in high-throughput gene targeting and conditional mutagenesis are creating new and powerful resources to study the in vivo function of mammalian genes using the mouse as an experimental model. Mutant ES cells and mice are being generated at a rapid rate to study the molecular and phenotypic consequences of genetic mutations, and to correlate these study results with human disease conditions. Likewise, classical genetics approaches to identify mutations in the mouse genome that ca ...[more]

PMID: 21185380

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Project description:A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) ? subunit. The identified SNPs are localized within the gene flanking regions (3' and 5' UTRs) and intronic regions. It was suggested that these nucleotide polymorphisms modify GlyRs expression and phenotypic behavior in humans contributing to an anxiety phenotype as a mild form of hyperekplexia. Hyperekplexia is a human neuromotor disorder with massive startle phenotypes due to mutations in genes encoding GlyRs subunits. GLRA1 mutations have been more commonly observed than GLRB mutations. If an anxiety phenotype contributes to the hyperekplexia disease pattern has not been investigated yet. Here, we compared two mouse models harboring either a mutation in the murine Glra1 or Glrb gene with regard to anxiety and startle phenotypes. Homozygous spasmodic animals carrying a Glra1 point mutation (alanine 52 to serine) displayed abnormally enhanced startle responses. Moreover, spasmodic mice exhibited significant changes in fear-related behaviors (freezing, rearing and time spent on back) analyzed during the startle paradigm, even in a neutral context. Spastic mice exhibit reduced expression levels of the full-length GlyRs ? subunit due to aberrant splicing of the Glrb gene. Heterozygous animals appear normal without an obvious behavioral phenotype and thus might reflect the human situation analyzed in the GWAS study on agoraphobia and startle. In contrast to spasmodic mice, heterozygous spastic animals revealed no startle phenotype in a neutral as well as a conditioning context. Other mechanisms such as a modulatory function of the GlyRs ? subunit within glycinergic circuits in neuronal networks important for fear and fear-related behavior may exist. Possibly, in human additional changes in fear and fear-related circuits either due to gene-gene interactions e.g., with GLRA1 genes or epigenetic factors are necessary to create the agoraphobia and in particular the startle phenotype.

Project description:BackgroundPatients and citizens need access to their health information to get a retrospective as well as a prospective view on their care and rehabilitation processes. However, patients' health information is stored in several health information systems and interoperability problems often hamper accessibility. In Sweden a national health information exchange (HIE) platform has been developed that enables information exchange between different health information systems. The aim of this study is to explore the opportunities and limitations of accessing and interacting with important health information through the Swedish national HIE platform.MethodsA single case study approach was used for this study as an in-depth understanding of the subject was needed. A fictive patient case with a pseudo-name was created based on an interview with a stroke coordinator in Stockholm County. Information access through the national health information exchange platform and available service contracts and application programming interfaces were studied using different scenarios.ResultsBased on the scenarios created in this study, patients would be able to access some health related information from their electronic health records using the national health information exchange platform. However, there is necessary information which is not retrievable as it is either stored in electronic health records and eHealth services which are not connected to the national health information exchange platform or there is no service contract developed for these types of information. In addition, patients are not able to share information with healthcare professionals.ConclusionThe national Swedish HIE platform provides the building blocks needed to allow patients online access to their health information in a fragmented and distributed health system. However, more complex interaction scenarios allowing patients to communicate with their health care providers or to update their health related information are not yet supported. Therefore it is of great importance to involve patients throughout the design and evaluation of eHealth services on both national and local levels to ensure that their needs for interoperability and information exchange are met.

Dataset Information

Mouse mutants and phenotypes: accessing information for the study of mammalian gene function.

Publications

Mouse mutants and phenotypes: accessing information for the study of mammalian gene function.

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