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  • 17th International Mouse Genome Conference (2003)
    s Research Institute Co Authors Swartzlander D Caldas H Armbruster D Ray W Herman G Institutions Columbus Children s Research Institute Six human disorders of post squalene cholesterol biosynthesis have been described Common features include growth and mental retardation major malformations skeletal defects and increasing severity with prenatal lethality for disorders involving earlier steps in the pathway We are using microarray analysis of gene expression to unravel the pathogenesis of these disorders Initial studies have focused on the X linked bare patches Bpa mouse that results from mutations in a novel sterol dehydrogenase Nsdhl that functions in cholesterol biosynthesis Heterozygous Bpa females have skin and skeletal abnormalities with a distribution reflecting random X inactivation while hemizygous males die as embryos between E8 5 and E9 5 To obtain a large homogeneous population of Bpa cells we generated doubly heterozygous females carrying a Bpa 1H X chromosome and an X expressing a GFP transgene that undergoes random X inactivation Embryonic fibroblasts were cultured from mutant and wild type female embryos and 99 pure populations of GFP negative Bpa 1H and wt cells were isolated by FACS Labeled cDNA from parallel cultures of sorted Bpa or wt cells grown in normal or

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file132.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    MOUSE P21 AND P53 NULL THE EPIGENETIC AS A KEY ANSWER FOR TUMORS de la Cueva E Spanish National Cancer Centre Co Authors Herranz M Fraga MF Esteller M Martín Caballero J Institutions Spanish National Cancer Centre In the present work we described the generation of double Knock out mice DKO for p21 and p53 genes in a C56BL 6J background its phenotyping and preliminary studies of epigenetic patterns in the spontaneous and gamma induced tumors An exhaustive analysis of the tumor types developed by these animals demonstrated a higher prevalence of sarcomas compare with single p53 KO The tumor spectrum in DKO mice is similar to p21 KO one but with shorter latency Preliminary analysis of single KO for p53 or p21 genes shows a great variability in the global methylation levels displayed by control healthy individuals spontaneous and gama induced tumors Accord with these data we decided to analyze methylation patterns global and promoter specific This analysis shows a general diminution of global methylation around 17 but being more extreme in tumors induced and spontaneous The global methylation variation has been significant in comparisons between C57BL 6J p21KO p53 KO and DKO being the highest one between C57BL

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file133.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Disease Phenotyping Methods Imaging The Genetics and Genomics of Infectious Disease Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 86 CONNECTING WITH PHENOTYPE MAKING THE MOST OF WHAT WE KNOW Eppig JT The Jackson Laboratory Co Authors Smith C Goldsmith C W Burkhart D L Lu I Taylor B A Vanden Borre P Washburn L L Lennon Pierce M Lutz C Institutions The Jackson Laboratory The Mouse Genome Informatics Database MGI http www informatics jax org is an international resource for the genetics genomics and biology of the laboratory mouse As such we work to support the use of the mouse as a model for human biology and disease A critical component is the cataloging and annotation of mouse mutant phenotypes and their correlation with human syndromes These efforts span the range of underlying genetic contribution from single Mendelian mutations to QTL and complex traits to strains whole animal genotypes This presentation will discuss the status of annotation of 10 000 phenotypic alleles and growing and the active development of the Mammalian Phenotype Ontology now with 3000 terms as methods to enhance data normalization of phenotype records A unified approach to phenotype information will enable

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file134.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Mouse System Biology Bioinformatics Multigenic and Multifactorial Trait Analysis Nutrition and Metabolic Disease Phenotyping Methods Imaging The Genetics and Genomics of Infectious Disease Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 87 HAPLOINSUFFICIENCY OF CTCF LEADS TO TUMOR DEVELOPMENT IN MULTIPLE TISSUES IN MICE Filippova G N Fred Hutchinson Cancer Research Center Co Authors Moore J M Gurley K Kemp C Institutions Fred Hutchinson Cancer Research Center The CTCF gene encodes a zinc finger protein involved in multiple aspects of gene regulation including methylation sensitive chromatin insulation in both normal development and cancer Somatic missense mutations of the CTCF DNA binding domain have been demonstrated in several human malignancies including breast prostate and Wilms tumors Loss of heterozygosity at the 16q22 1 region containing the human CTCF gene is frequently observed in these tumors but the demonstrated rate of biallelic mutations of the CTCF gene is significantly lower than the rate of loss of heterozygosity Analysis of spontaneous and carcinogen induced tumor development in CTCF heterozygous mice coupled with analysis of the CTCF gene and protein in the resulting tumors revealed that haploinsufficiency of the CTCF gene results in enhanced tumor formation in multiple tissues

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file135.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    TO DEFECTS IN RETROGRADE TRANSPORT Fisher E M C Institute of Neurology London Co Authors 1 Hafezparast M Ahmad Annuar A 2 Ruhrberg C Lalli G Shima D Toda T Schiavo G 3 Ball S Peters J 4 Bowen S Martin J E Institutions 1 Institute of Neurology London 2 Cancer Research UK London 3 MRC Mammalian Genetics Unit Harwell 4 Royal London Hospital London We set out to phenotypically and genetically analyse a mouse mutant the Legs at Odd Angles Loa mouse which has progressive loss of locomotor function in heterozygotes and is a model for aspects of human motor neuron diseases common and incurable killers that strike all age groups We used a range of methods to define the molecular genetics of the Loa mutation histopathology cell biological features including axonal transport and other aspects of the mutation including studying neurodevelopmental defects seen in homozygous embryos On positional cloning of the mutation we identified a single base pair change in the dynein heavy chain gene 1 Dnchc1 This conservative amino acid change leads to progressive loss of anterior horn cells in the spinal cord of heterozygous mice and to neurodevelopmental defects in homozygous mice including deficits in facial

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file136.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    REVEALS A NOVEL MUTATION IN ZAP70 Flaswinkel H Institute of Molecular Animal Breeding Gene Center Feodor Lynen Str 25 82377 München Germany Co Authors 2 Soewarto D 3 Köllisch G 1 Howaldt M 2 Hrabe de Angelis M 4 Balling R 3 Behrendt H 3 Ring J 5 Pfeffer K 1 Wolf E 3 Jakob T Institutions 1 Institute of Molecular Animal Breeding Gene Center Feodor Lynen Str 25 82377 München Germany 2 Institute of Experimental Genetics GSF Research Center for Environment and Health Ingolstädter Landstr 1 Neuherberg Germany 3 Division Environmental Dermatology and Allergology GSF TUM Ingolstädter Landstr 1 85764 Neuherberg Germany 4 Gesellschaft für Biotechnologische Forschung mbH Mascheroder Weg 1 38124 Braunschweig Germany 5 Institute for Med Microbiology Heinrich Heine Universität Düsseldorf Universitätsstr 1 40225 Düsseldorf Laboratory animals carrying genetic mutations are of great value to study the biological function of genes The NEU Mouse Mutagenesis Project aims at a large scale production of mouse mutants using the potent mutagen ethyl nitrosourea ENU Using this approach we have identified a mouse mutant with increased plasma IgE levels and a drastic reduction of peripheral T cells Dramatically reduced numbers of T cells are also found in the spleen Thymocyte analysis revealed a near complete block in T cell devellopment at the transition from CD4 CD8 double positive to CD4 or CD8 single positive cells Chromosomal mapping revealed a link to a 2 1 cM region localized on chromosome 1 Sequencing of selected candidate genes revealed a novel point mutation at the kinase domain of zeta chain associated protein kinase 70 kD ZAP70 ZAP70 is involved in early TCR signalling and in thymocyte development In humans mutations in the ZAP70 kinase domain have been reported in patients with a novel form of severe combined immuno deficiency disease SCID characterized by

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file137.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Methods Imaging The Genetics and Genomics of Infectious Disease Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 90 PATHOLOGY OF CUSTOMIZED CELL TYPE SPECIFIC AUTOIMMUNITY IN HEMAGGLUTININ TRANSGENIC MICE Gruber AD Department of Pathology School of Veterinary Medicine Hannover Germany Co Authors Bruder D Westendorf AM Templin M Buer J Institutions German Research Center for Biotechnology Braunschweig Germany The regulatory mechanisms that control autoimmune phenomena are of considerable interest for a variety of disorders but available models are limited Three lines of transgenic mice were generated with a partial influenza virus hemagglutinin HA coding sequence under expressional control of one of three cell type specific gene promoters Restricted HA expression was obtained by transcriptional control under the surfactant protein C SPC promoter lung the villin VIL promoter intestine or the insulin INS promoter pancreas No morphological or functional abnormalities were seen in these mice However when the mice were crossed with mice transgenic for an HA specific T cell receptor TCR HA the double transgenic mice developed severe autoimmune inflammation in the respective tissues The SPC HA x TCR HA the VIL HA x TCR HA and the INS HA x TCR HA double transgenic

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file138.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    The Genetics and Genomics of Infectious Disease Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 91 CHARACTERIZATION OF MOUSE MUTANTS WITH KINKY TAIL AND COILED TAIL FROM THE MUNICH ENU MUTAGENESIS SCREEN Grundner Culemann E GSF National Research Center for Environment and Health Institute of Experimental Genetics Muenchen Neuherberg Germany Co Authors Abe K Fuchs H Hrabe de Angelis M Institutions GSF National Research Center for Environment and Health Institute of Experimental Genetics Muenchen Neuherberg Germany Within the Munich ENU Mouse Mutagenesis Screen several mutants with defects in bone or cartilage development have been detected In some of these mutants we perform an in depth phenotypic characterization and high resolution genetic mapping Two dominant mutants show almost identical coiled tail skeletal phenotypes The tails are short and coiled in heterozygous animals and homozygous animals are embryonic lethal Detailed skeletal analysis and genetic mapping are in progress The recessive mutant KTA041 shows a complex phenotype Homozygous KTA041 mice are smaller than wild type mice They have a shorter tail whereas the number of vertebrae is not changed In most animals the tail is kinky sometimes quite severe Some rib vertebrae have abnormal shape Strongly affected animals

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file139.shtml (2016-02-17)
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