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  • 17th International Mouse Genome Conference (2003)
    R 2 Calzada Wack J 2 Rosemann M 1 Hemmerlein B Institutions 1 University of Göttingen Federal Republic of Germany 2 GSF National Research Center for Environment and Health Neuherberg Federal Republic of Germany Rhabdomyosarcomas RMS are a heterogeneous group of tumors with respect to their molecular basis degree of differentiation histology and clinical behavior Because of the wide variation of tumor morphology it is often difficult to distinguish between subtypes of RMS It is expected that a better understanding of the molecular changes in these tumors will help to establish a better classification system leading to an improved treatment of the disease Up to date no report is available regarding the correlation between the genetic etiology of human RMS and their molecular profiles This is because the genetic factors of human RMS are complex and very difficult to determine Therefore we compared the molecular profiles of two murine RMS models with defined primary genetic defects Here we report that in comparison to p53 dependent RMS RMS of heterozygous Patched1 Ptch1 mice show a less aggressive growth and are histologically more differentiated By means of cDNA microarray analysis we demonstrate that tumors of Ptch1 mutants predominantly express various myogenic markers

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file140.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    4 Flavell R A 5 Wakeland E K Institutions 1 Joslin Diabetes Center 2 University College London 3 University of Colorado 4 Yale University 5 University of Texas Southwestern Medical Center Type 1 diabetes is a polygenic autoimmune disease in man and the NOD mouse The genes in the MHC region are the most important in determining susceptibility or resistance to type 1 diabetes The region 33 9 Mbp centromeric to the Lmp2 gene of the NOD mouse was replaced with the same R209 region by introducing an intra MHC recombinational hotspot from the B10 A R209 mouse This replacement prevented the development of diabetes form 71 to 3 and insulitis from 61 to 15 Similarly the replacement of the NOD MHC A E and D region with the same R209 region prevented the development of diabetes from 71 to 0 and insulitis from 61 to 3 We have established six congenic lines A F with a homozygous r209 r209 segment in the region within 7 4 Mbp centromeric to the Lmp 2 hotspot and two congenic lines G H with a homozygous r209 r209 segment within a region 23 Mbp from the centromere Our observation suggests that in addition

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file142.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    AND HUMANS Hillebrandt S Department of Medicine III University Hospital Aachen Aachen University RWTH Co Authors Matern S Lammert F Institutions Department of Medicine III University Hospital Aachen Aachen University RWTH Previously we employed QTL mapping to identify murine gene loci Hifb loci that confer susceptibility to hepatic fibrosis Our aims now were i to assess whether the gene encoding complement factor 5 C5 underlies the murine QTL on chromosome 2 and ii to confirm the association between C5 and liver fibrosis in humans Genetic mapping demonstrates that the Hfib2 locus co localizes with the gene encoding C5 on mouse chromosome 2 The maximum LOD scores for the stage of hepatic fibrosis 2 3 and hepatic collagen concentrations 3 4 are localized close to the C5 gene C5 mice display significantly P 0 05 lower stages of fibrosis 1 8 0 2 vs 2 4 0 2 and collagen levels 399 36 vs 598 69 g hydroxyproline g liver after CCl4 challenge compared to C5 mice indicating that C5 deficiency is protective against liver fibrosis The hypothesis that C5 modulates liver fibrogenesis is supported by the fact that fibrogenic hepatic stellate cells continue to express the C5 receptor after activation

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file143.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Genomics of Infectious Disease Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 98 IDENTIFICATION OF A MISSENSE MUTATION RESPONSIBLE FOR NEUROMUSCULAR DEGENERATION IN mnd2 MICE Jones JM Department of Human Genetics Co Authors 1 Ji W 2 Saunders T L 2 Van Keuren M L 1 Meisler M H Institutions 1 Department of Human Genetics 2 Transgenic Model Laboratory University of Michigan mnd2 is a spontaneous autosomal recessive disorder characterized by neuromuscular degeneration The mutation was discovered in a colony of C57BL 6J mice at the University of Michigan in 1990 Affected mice can be identified at P25 by failure to grow and mild ataxia The disease progresses with development of repetitive movements chorea and dystonia In the final stages there is akinesis leading to death between P30 and P40 The mnd2 gene was mapped to a 950 kb region of mouse chromosome 6 in a B6XCASTcross and further localized to 250 kb in a B6XSJL cross Transgene rescue by overlapping BAC clones and one BAC carrying a deletion narrowed the target region to a 40 kb interval containing 6 candidate genes Genomic sequencing of the region identified an A to T nucleotide substitution that

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file146.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    of Medical Science Co Authors 2 Adato A 2 El Amraoui A 3 Kominami R 2 Petit C 1 Yonekawa H Institutions 1 The Tokyo Metropolitan Institute of Medical Science 2 Institut Pasteur 3 Niigata Graduate School of Medicine Dental Science Jackson shaker js is a deaf mouse mutant with stereocilia degeneration in its inner ear hair cells Recently we have defined by positional cloning that the js gene encodes a new scaffold protein sans which contains three ankyrin repeats and a SAM domain in its N and C terminal ends respectively Mutations in the human gene were found to cause syndromic deafness Usher syndrome type IG USH1G Four other USH1 genes have been identified so far encoding myosinVIIA harmonin cadherin23 and protocadherin15 Here we present indications for interactions between sans and some other USH1 proteins As a first step toward understanding the function of sans we have determined its expression pattern in the inner ear Sans is widely expressed in hair cells Interestingly sans and myosinVIIA were found to be co localized in the hair cells By yeast two hybrid analysis we tested whether sans interacts with the other USH1 gene products using its N and C terminal fragments

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file147.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Co Authors Rockwood S F Mobraaten L E Davisson M T Institutions The Jackson Laboratory The Induced Mutant Resource IMR at The Jackson Laboratory is a centralized repository that collects and distributes biomedically significant targeted and transgenic mutant mouse strains to the scientific community Genetic integrity and protection of each IMR strain are ensured by cryopreservation The IMR maintains an online database of curated strain information as a resource for researchers Mutant strain records in the IMR database include phenotypic descriptions transgene or targeted mutation information strain development and maintenance procedures references and links to other relevant online resources Currently the IMR contains over 950 accepted strains and adds approximately 6 7 strains each month Over 130 000 mice are distributed each year from the IMR Recent additions to the IMR include a mouse model for Parkinson s Disease that over expresses mutant human amyloid beta precursor protein in nervous tissue and a mouse model for asthma research a targeted mutation of the Tbx21 T box 21 gene that causes hyper responsiveness with airway remodeling and is susceptible to chronic intestinal inflammation Also under development is a targeted mutation of the Bcl2l11 BCL2 like 11 gene that develops progressive systemic

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file148.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Department of Gastroenterology Hepatology and Endocrinology Medical School of Hannover Telomeres are specialised nucleo protein structures at the end of eukaryotic chromosomes and the telomeric binding factor 2 TRF2 is essential for the stabilization of the tertiary telomere structure To characterize the consequences of telomere dysfunction in vivo we use two experimnetal systems 1 Telomerase deficient mice lack the RNA component of telomerase mTERC and show critical telomere shortening in late generations 2 Expression of a dominant negative form of TRF2 TRF2 ΔBΔM induces rapid induction of telomere dysfunction in murine and human cells and was applied to mice by adenoviral transfer Our studies in mTERC mice show that telomere shortening is heterogeneous within an organ system and that a sub population of cells with critically short telomeres is completely inhibited from entering the cell cycle In contrast cells with sufficient telomere reserves normally enter the cell cycle and compensate for organ regeneration by additional rounds of cell division The cells with short telomeres that are blocked from organ regeneration have markers of cellular senescence Our studies show that cellular senescence induced by telomere shortening is a conditionally active programme dependent on mitogen stimulation in part mediated through the activation

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file149.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Sponsor Exhibitor List Awards Photographs POSTER 102 DEVELOPMENT OF NEW MODELS FOR THE DOWN SYNDROME BY CHROMOSOMAL ENGINEERING IN THE MICE Levavasseur F CNRS Institut de transgenose Orléans France Co Authors Besson V Brault V Duchon A Labbe M Luo F Magnol L Herault Y Institutions CNRS Institut de transgenose Orléans France Trisomy 21 Down Syndrome is one of the most common chromosomal disorders occurring once in every 700 newborns Down syndrome is a complex disorder affecting the morphology and physiology of numerous organs like the nervous system heart skeleton and gastrointestinal tract It is due to dosage imbalance for genes carried by chromosome 21 HSA21 The murine homologues of HSA21 genes have been located in syntenic region on chromosomes 10 MMU10 16 MMU16 17 MMU17 Several trisomic models have been produced in the mice and correspond to a partial or complete trisomy of MMU16 However the most commonly used models display some features of the human syndrome including some behavioral phenotypes but it does not resume the whole phenotype that should be expected More animal models are required to get a better understanding of the molecular pathophysiology of the trisomy Thus we have undertaken the creation of new mouse

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file150.shtml (2016-02-17)
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