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  • 17th International Mouse Genome Conference (2003)
    Svenson K L The Jackson Laboratory Co Authors Paigen B O Brien T P Bult CJ Macauley J B Peters L L Institutions The Jackson Laboratory Large scale mutagenesis strategies using the mouse are currently being implemented in many laboratories world wide This approach holds promise for identifying key entry points into the mouse genome that will accelerate our understanding of normal and disease processes Using phenotype driven strategies to identify deviant animals followed by genetic mapping this process will help to link genetic variation to gene function The Center for New Mouse Models of Heart Lung Blood and Sleep Disorders at The Jackson Laboratory employs this approach to identify new mouse models of human disease in these areas using two important resources 1 Chemically induced third generation mutant mice and 2 40 inbred mouse strains We have developed high throughput non invasive phenotyping protocols to evaluate approximately 200 mutagenized genomes annually and for comprehensive characterization of a large inventory of widely used inbred strains All resources generated by this effort including mutant mouse models protocols and software are made freely available to the scientific community through our web site http pga jax org To date we have identified 275

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file168.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    MOUSE WITH DEFECTS IN THE SONIC HEDGEHOG SIGNALING PATHWAY Tran P Genetics Division Harvard Medical School Brigham and Women s Hospital Boston MA Co Authors Herron B Parker K Qiu H Beier DR Institutions Genetics Division Harvard Medical School Brigham and Women s Hospital Boston MA In an ENU mutagenesis screen for late embryonic developmental phenotypes caused by autosomal recessive mutations a mutant mouse we call alien aln was identified that displays preaxial polydactyly split and fused ribs cortical layering abnormalities and occasionally neural tube defects This phenotype is remarkably similar to that of open brain opb which is caused by mutations in Rab23 a negative regulator of Shh signaling While our mapping analysis has excluded the possibility that aln is an allele of opb several data still place aln in the Shh pathway The invariable presence of preaxial polydactyly suggests there is increased Shh signaling in the zone of polarizing activity of developing limb buds Additionally immunofluorescence with antibodies to Hnf3 β Nkx2 2 and Pax6 genes regulated by Shh signaling show altered expression patterns in E10 5 spinal cords Most importantly aln Shh double mutants have polydactylous limbs and a partial head suggesting that the aln gene product

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file169.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    MODELS FOR HUMAN CARDIOVASCULAR DISEASE Van Agtmael T MRC Human Genetics Unit Western General Hospital Edinburgh UK Co Authors McKie L West K Cross S Jackson I J Institutions MRC Human Genetics Unit Western General Hospital Edinburgh UK Human cardiovascular disease is the leading cause of death in Western society The characterisation of mouse models for cardiovascular disease will aid in the identification of novel genes and the pathways through which these genes exert their function ENU mutagenesis is a very effective way of generating mouse models for complex human diseases as it causes single base pair changes which may accurately reflect causative human mutations responsible for these traits As part of a large ENU mutagenesis screen for eye phenotypes a mutant Raw was identified which may be a model for human cardiovascular disease Raw retinal arteriolar wiring is characterised by a silvery appearance to the arterioles in the retina Possibly the primary defect is the observed decrease in the level of HDL cholesterol and increased blood triglyceride levels Raw has been mapped to the most proximal part of chromosome 8 where it co localises with another ENU induced mouse mutant Svc small with vacuolar cataracts which is characterised by

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file170.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    A 1 Schäble K 1 Tiedemann H 1 Schneltzer E 1 Steinkamp R 5 Alessandrini F 5 Jakob T 9 Binder E 6 Kremmer E 5 Behrendt H 5 Ring J 7 Zimmer A 11 Peters C 3 Flaswinkel H 2 Busch D 2 Pfeffer K 10 Klopstock T 10 Gekeler F 9 Ohl F 8 Balling R 3 Wolf E and 1 Hrabe de Angelis M Institutions 1 Institute of Experimental Genetics GSF Research Center for Environment and Health Germany 2 Institute of Medical Microbiology Immunology and Hygiene Technical University of Munich 3 Institute of Molecular Animal Breeding Gene Center University of Munich Germany 4 Max Delbrueck Centre Molekulare Genetik und Mikrosatellitenzentrum Germany 5 Division Environmental Dermatology and Allergology Germany 6 Institute of Immunology GSF Research Center for Environment and Health Germany 7 Division MolecularNeurobiology Polyclinic for Psychiatry University of Bonn Germany 8 GBF German Resaerch Center for Biotechnology 9 Max Planck Institute of Psychiatry Munich Germany 10 Department of Neurology Clinic Groβhadern University of Munich Germany 11 Institute of Internal Medicine I Medical Microbiology University Clinic Freiburg Germany Mouse models have proven to play an important role in gene function studies for inherited diseases in humans We give an update of one of the largest ENU mutagenesis programs in Europe the Munich ENU Mouse Mutagenesis Project After having focused on dominant traits in the first years we put our main efforts during the last years on recessive phenotypes In addition we continue to produce F1 animals to further isolate novel dominant alleles of known and new genes Currently more than 32 000 mice have been investigated for dysmorphology and blood based parameters To date more than 500 mutant lines have been isolated Novel dominant or recessive phenotypes have been identified with specific abnormalities comprising congenital malformations biochemical alterations

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file171.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    H 1 Ishijima J 1 Kobayashi K 1 Kawai A 1 Kushida T 1 Nishii R 2 Gondo Y 1 Noda T 1 Shiroishi T Institutions 1 Mouse Functional Genomics Research Group RIKEN GSC 2 Population and Quantitative Genomics Team RIKEN GSC A Attention deficits and hyperactivity disorder ADHD is a common behavioral disorder affecting 5 school aged population The main symptoms of ADHD are persistent inattention and or hyperactive impulsive behavior which cause impaired social and or academic functioning as a result Family and twin studies have revealed that ADHD has genetic basis Association and linkage of ADHD with D4 D2 and D5 dopamine receptor genes DRD4 DRD2 and DRD5 dopamine transporter gene DAT1 and dopamine beta hydroxylase gene DBH have been suggested However no genes involved in ADHD have been unambiguously identified ADHD relevant behavioral abnormality is one of the targets of ENU mutagenesis program in RIKEN GSC Behavioral traits of mice relevant to ADHD are 1 increased locomotor activity in open field and home cage and 2 paradoxical calming effects of psychostimulants such as methylphenidate on hyperactivity We have screened 1 354 G1 animals in home cage activity test and 2 023 animals in open field test

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file172.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Laboratory Co Authors Gwynn B Ciciotte S L Smith R S Peters L L Institutions The Jackson Laboratory Hermansky Pudlak Syndrome HPS is a genetic disorder characterized by defects in three lysosome related organelles melanosomes lysosomes and platelet dense bodies The phenotype of HPS includes oculocutaneous albinism prolonged bleeding and lysosomal storage disease HPS is genetically heterogeneous Fifteen non allelic mouse models exist for HPS six of which have counterparts in the human Many HPS gene products associate in multiprotein complexes involved in the biogenesis of lysosome related organelles An exacerbated phenotype often results from crossing animals bearing mutations that act at different stages of LRO biogenesis or encode components of different complexes We set up intercrosses between several mutants to determine genetically if the genes are involved affect the same HPS related pathways We utilized cappuccino cno Chr 5 reduced pigmentation rp Chr 7 and ruby eye ru Chr 19 all HPS mouse models and R26 W Chr 7 a recessive mutation that produces a mosaically expressed pigment dilution Previous studies show that rp and R26 W interact We examined the offspring to determine melanocyte defects and measured bleeding time to assess platelet function Neither ru and cno nor

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file173.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    MEDIATED CHRONIC INTESTINAL DISEASE IMMUNE REGULATION VERSUS INFLAMMATION Westendorf AM German Research Centre for Biotechnology Braunschweig Germany Co Authors Geffers R Templin M Buer J Bruder D Institutions German Research Centre for Biotechnology Braunschweig Germany Several studies have suggested that chronic inflammatory bowel disease might be a consequence of antigen specific recognition of appropriate T cells which expand and induce immunopathology To analyze the immunological and molecular mechanisms of antigen specific CD4 T cell response in chronic mucosal inflammation a transgenic mouse expressing hemagglutinin HA in enterocytes of the intestinal epithelium was generated Concomitant expression of HA and a MHC class II restricted T cell receptor specific for HA resulted in an autoimmune mediated chronic inflammation accompanied by activation of peripheral HA specific lymphocytes and lymphocytic infiltration in the Lamina propria and intestinal epithelium The mild form of mucosal inflammation suggested the induction of peripheral tolerance mechanisms To study these mechanisms in more detail extensive immunological characterization of self reactive LPL and IEL isolated from the inflamed intestine was performed by cellular assays and global gene expression profiling Enterocyte specific LPL and IEL show a reduced reactivity to their corresponding antigen and secrete lower amounts of inflammatory cytokines in vitro

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file174.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    University of Michigan Co Authors 2 Mohlke K L 1 Korepta L M 1 Manning S L 3 Aiyagari A 4 Dougherty K M 1 3 Ginsburg D Institutions 1 University of Michigan 2 National Institutes of Health 3 Howard Hughes Medical Institute 4 Pfizer Global Research In characterizing gene targeted mice deficient in Planh2 we observed mice which were small at birth exhibited delayed growth and had decreased lifespan We initially attributed this growth abnormality to deficiency of Planh2 an intracellular serpin hypothesized to play roles in apoptosis and tumor growth Subsequent analysis of mice derived from two additional independent ES cell clones yielded Planh2 deficient mice that displayed no growth abnormalities Upon further analysis of the original Planh2 deficient mouse line we observed recombination between the small phenotype and the Planh2 locus in approximately 10 of the offspring from a Planh2 heterozygote intercross An intercross with CASA RK mice mapped the location of the locus responsible for the small phenotype to a less than 2 cM interval 12 cM proximal to Planh2 on mouse chromosome 1 bounded by markers rh114877 and rh114812 Mice homozygous deficient for a known gene in the candidate interval Irs1 have been reported to

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file175.shtml (2016-02-17)
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