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  • 17th International Mouse Genome Conference (2003)
    ATTACHMENT REGIONS IN THE DISTAL IMPRINTED DOMAIN OF MOUSE CHROMOSOME 7 Purbowasito W 1 National Institute of Genetics 2 Kyushu University Co Authors 1 Suda C 1 3 Yokomine T 4 Zubair M 1 Sado T 5 Tsutsui K 1 3 Sasaki H Institutions 1 National Institute of Genetics 3 Graduate University for Advanced Studies 4 National Institute for Basic Biology 5 Okayama University A small subset of genes in the mammalian genome are epigenetically imprinted so that they are expressed in a parental origin specific manner Many imprinted genes form clusters in the genome for example fourteen imprinted genes have been identified in the distal imprinted domain on mouse chromosome 7 This domain is further divided into two functional sub domains the Igf2 H19 sub domain and the Kcnq1 Kvlqt1 Cdkn1c p57kip2 sub domain To understand the mechanisms of imprinting of this domain it is important to know its higher order chromatin structure in the nucleus Genome DNA is attached to the nuclear matrix at specific sites and forms chromosomal loops These matrix attachment association regions MARs play important roles in transcriptional regulation and defining the domain boundaries We now constructed three cosmid contigs covering almost all of the

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file100.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    THE NATIONAL GENOME RESEARCH NETWORK Rieger S Experimental Genetics Neuherberg Co Authors 1 Drobyshev A 2 Schulz H Stöger T 3 Alessandrini F Jakob T Behrendt H 4 Seliger B 5 Graw J 6 Ziesenis A Schmitt John 7 Schachner M 8 Willnow T 9 Lengeling A Hauser H 10 Klingenspor M 11 Chakraborty T 1 Hrabe de Angelis M 1 Beckers J Institutions GSF National Research Center for Environment and Health Institutes for 1 Experimental Genetics Neuherberg 2 Inhalation Biology Neuherberg 3 Division of Environmental Dermatology and Allergy GSF TUM Neuherberg 4 Medizinische Klinik und Poliklinik Johannes Gutenberg Universität Mainz 5 Developmental Genetics Neuherberg 6 University of Bielefeld 7 ZMN University of Hamburg 8 MDC Berlin 9 GBF Research Center Braunschweig 10 Phillips University Marburg 11 Justus Liebig University Gieβen Coordinator of the NGFN Xpress Consortium The NGFN Xpress is a national scientific network for RNA expression analyses of established mouse models for human disorders and basic research using DNA chip technology We extend the systematic and standardized phenotypic analysis to the gene expression level by establishing expression profiles of organs from adult mice embryonic tissues or from mouse cell lines A non redundant near genome wide and fully sequenced 20 000 mouse clone chip is used Such RNA expression profiles help to identify affected molecular pathways and detect novel regulatory interactions As examples we present data from two collaborations We established profiles from differentially regulated genes caused by overexpression of the oncoprotein H er 2 neu constitutively expressed in transformed mouse fibroblasts Her 2 neu is a 185 kDa membrane associated tyrosine kinase and a marker for human breast ovarian and renal cell carcinomas RNA expression profiles revealed significant up and downregulation of approximately 40 and 70 genes respectively which appear to be involved in cell cycle regulation

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file101.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    REQUIRED FOR 18S RIBOSOMAL RNA BIOGENESIS Rohozinski J Department of Obstetrics and Gynecology Co Authors 1 2 Bishop CE Institutions 1 Department of Obstetrics and Gynecology 2 Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas The recessive non pleiotropic jsd mutation is characterized by adult male sterility The testes of male mice homozygous for the mutation undergo a single wave of spermatogenesis after which type A spermatogonial stem cells fail to continue differentiation Using meiotic mapping we localized jsd to an interval of approximately 0 4cM at 49cM on chromosome 1 between markers D1Mit215 and 257SP6 a distance of 1 5Mb After extensive sequence analysis of all genes in the critical interval we identified an uncharacterized gene located within an intron of Facl3 Fatty acid coenzyme A ligase long chain 3 In situ RNA hybridization to testis sections from wild type mice showed that this gene was expressed in the germ line during the early stages of spermatogenesis Sequencing revealed that a substitution of CTTTTC for GG had occurred specifically in the jsd copy of the gene The mutation was in the third exon within the open reading frame resulting in a frame shift and disruption

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file102.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    and Wurst W Institutions 1 Department of Vertebrate Genomics Max Planck Institute for Molecular Genetics Berlin Germany 2 Institute of Developmental Genetics GSF National Research Center for Environment and Health Neuherberg Germany 3 Laboratory for Molecular Hematology University of Frankfurt Medical School Frankfurt am Main Germany 4 Department of Developmental Biology Max Planck Institute of Immunobiology Freiburg Germany 5 Department of Cell and Molecular Biology Institute of Biochemistry and Biotechnology TU Braunschweig Braunschweig Germany We have established a Research Consortium German Gene trap Consortium GGTC to carry out large scale gene trap mutagenesis in ES cells Its goal is to contribute to the saturation mutagenesis of the mouse genome and to generate a mouse model for each gene in cooperation with the International Mouse Mutant Consortium IMMC Towards this goal the GGTC has generated 11 266 mutant ES cell lines and has identified the gene trap integration sites in 8423 clones Of the generated gene trap sequence tags GTSTs 5142 informative sequences were obtained of which 3750 corresponded to known genes 623 to ESTs and 679 to putative novel genes We compared the insertion performance of four different gene trap vectors pT1βgeo pT1ATGβgeo U3βgeo and Rosaβgeo The integration sites of

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file103.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    N 1 Matsumoto R 2 Ikeda A 2 Karashima Y 2 Inoue M 2 Kaneda H 2 Minowa O 2 Wakana S 2 Noda T 2 Shiroishi T 1 Gondo Y Institutions 1 Population and Quantitative Genomics Team RIKEN GSC 2 Mouse Functional Genomics Research Group RIKEN GSC Mutation discovery is one of the most important issues for the gene driven ENU mutagenesis For the high throughput search of point mutations we have adopted the Temperature Gradient Capillary Electrophoresis TGCE method It is relatively low cost and high throughput for mutation discovery By using positive controls we calibrated the running condition of TGCE for several target amplicons We have so far screened 24 genes in 6000 G1 mice by TGCE and succeeded in finding novel 50 point mutations in 19 genes A few mutations were found to be identical probably due to the clonal expansion during the mutagenized spermatogenesis Subtracting these duplicates we concluded that there are 46 independent ENU induced mutations by screening the total of 60 Mbp Out of 24 genes screened we have not been able to detect any mutations in 5 genes and have found only one mutation in the other 5 genes The remaining 14

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file104.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    FUNCTION ANALYSIS AND TARGET VALIDATION Sedlmeier R Ingenium Pharmaceuticals AG Co Authors Peters T Huffstadt U Wattler S Nehls M Institutions Ingenium Pharmaceuticals AG The development of novel therapeutic concepts with high predictive value requires the functional analysis of target genes in vivo The mouse is the model of choice for in vivo studies of gene function but the development of just one possible allelic variant is time consuming and

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file105.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    58 MOUSEEXPRESS RNA EXPRESSION PROFILING OF ENU MOUSE MUTANTS Seltmann M GSF Research Center for Environment and Health Experimental Genetics Ingolstaedter Landstrasse 1 D 85764 Neuherberg Muenchen Co Authors 1 Horsch M 1 Drobyshev A 2 Mader M 2 Tornow S 3 Frohme M 3 Korica T 2 Mewes W 3 Hoheisel J 1 Hrabe de Angelis M 1 Beckers J Institutions 1 GSF Research Center for Environment and Health Experimental Genetics Ingolstaedter Landstrasse 1 D 85764 Neuherberg Muenchen 2 GSF Research Center for Environment and Health Bioinformatics Ingolstaedter Landstrasse 1 D 85764 Neuherberg Muenchen 3 DKFZ Functional Genome Analysis Im Neuenheimer Feld 580 D 69120 Heidelberg Comparative genome wide expression profiling is a powerful tool in the effort to annotate the mouse genome with biological function The routine analysis of RNA expression data from organs of mouse mutant lines from the Munich ENU mutagenesis screen will reveal the molecular biology of such mutants and provide new insights into mammalian gene function Aiming for large scale and high throughput analysis we show in a direct comparison of pooled versus individual samples of organs that pools may be used as a highly efficient screening tool In order to reduce biological noise

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file106.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    OF THE BROWN LOCUS ON CHROMOSOME 4 AND A HIGH THROUGHPUT SEQUENCE BASED SCREEN TO IDENTIFY MUTATIONS Smyth I MRC Human Genetics Unit Edinburgh Co Authors 2 Holdsworth A 1 Edgar R 1 White S 1 Taylor M 1 Gautier P 2 Justice M 1 Jackson I Institutions 1 MRC Human Genetics Unit Edinburgh 2 Baylor College of Medicine Houston TX The brown Tyrp1 locus on mouse chromosome 4 is one of the best studied regions of the mouse genome Over the last 50 years a panel of 27 independent deletions generated from a variety of mutagenic protocols have been characterised within this region We have utilised this resource and finished sequence from a BAC contig across this 22Mb interval to define deletion breakpoints and to identify candidate genes for several mouse phenotypes known to map to this region In particular we present analysis of candidate genes for two mutants depilated dep a spontaneous mutation affecting the coat and brown associated fitness baf a semi viable mutant Using the deletions as the basis for an ENU mutagenesis screen we have identified 24 recessive mutant mouse lines whose phenotypes range from lethality to defects of behaviour and development In collaboration with

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file107.shtml (2016-02-17)
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