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  • 17th International Mouse Genome Conference (2003)
    Wagner S 2 Hrabe de Angelis M 1 Wolf E 1 Aigner B Institutions 1 Institute of Molecular Animal Breeding and Biotechnology LMU Munich Hackerstrasse 27 85764 Oberschleiβheim 2 Institute of Experimental Genetics GSF Research Center Ingolstädter Landstrasse 1 85764 Oberschleiβheim Neuherberg Iron plays an essential role in many metabolic processes as part of oxygen binding molecules and many enzymes The toxic effects of iron overload is triggered by its radical forming capacity Since there is no physiologic way of iron excretion the tissue iron content is tightly regulated by effective mechanisms controlling the intestinal iron uptake and its distribution among different tissues The susceptibility of this system for endogenous or exogenous impairment is documented by the high frequency of iron metabolism disorders in humans Regulation of iron uptake and distribution has been partly unravelled by investigations on spontaneous or induced mutants of laboratory animals However many mechanisms of regulation still remain to be elucidated which requires additional animal models The clinical chemical screen within the Munich ENU mouse mutagenesis project established more than 100 new mutant mouse lines characterized by aberrant plasma concentrations of specific substrates or electrolytes unphysiologic plasma enzyme activities or changes in haematological parameters More than

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file159.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    C 1 Schlegelberger B Institutions 1 Institute of Cell and Molecular Pathology Hannover Medical School 2 Department of Pediatric Hematology and Oncology Hannover Medical School 3 Institute of Clinical Genetics Dresden Aims Retrovirally induced expression of fusion proteins in human and mouse cells is a common tool to understand the development and progression of hematologic malignancies Recently chromosome aberrations syntenic with those in human leukemias were found in a double transgenic mouse model for AML M3 We therefore investigated a possible genetic instability and karyotypic evolution after transfection of BM185wt cells using Spectral Karyotyping SKY and fluorescence in situ hybridization FISH This mouse pre B cell line is characterized by the retrovirally induced expression of the p185 BCR ABL fusion protein and represents an in vitro model for Philadelphia chromosome positive acute lymphocytic leukemia ALL Methods Chromosome preparations were made from BM185wt cells and from BM185wt cells retrovirally transfected to express ovalbumin GFP or GFP alone to study T cell response Hybridization with the SKY probe was performed according to manufacturer s instructions Applied Spectral Imaging To determine the quantity of cells with Der 12 T XE 12D a FISH probe was generated from BAC clone RP23 382J5 hybridizing to

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file160.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    POSTER 113 PHENOTYPIC Characterization AND MAPPING of LITTLE CHIN an ENU GENERATED mouse mutant THAT SHOWS CLEFT PALATE AND MICROGNATHIA Saadi I Genetics Division Harvard Medical School Brigham and Women s Hospital Boston MA Co Authors Herron B J Bjork B C Lund J J Maas R L Beier DR Institutions Genetics Division Harvard Medical School Brigham and Women s Hospital Boston MA Little chin lc was identified in an analysis of E18 5 progeny of ENU mutagenized mice Affected mice show a cleft palate and a small jaw with 100 penetrance as well as a frequent occurrence of a split xiphoid process lc mutants do not nurse upon birth and show perinatal lethality likely due to asphyxiation Cleft palate and mandibular growth retardation coupled with macroglossia are hallmarks of Pierre Robin sequence PRS seen in humans Children with PRS birth defects frequently have breathing problems due to airway obstruction Histological analysis of E18 5 lc embryos also shows narrowing of the airway At E14 5 the palatal shelves fail to elevate in lc mutants This elevation defect may be a result of obstruction by the tongue which also appears malformed at E14 5 The malformation of the tongue in

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file161.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Madrid Spain Phone 34 91 3978200 FAX 34 91 3978202 Co Authors 1 López P 1 Vaquero C 1 Matabuena M 1 Villa M 1 Fernández P 2 Montagutelli X 2 Szatanik M 2 Gué net JL and 1 Fernández Piqueras J Institutions 1 Dpto Biología Lab Genética Molecular Humana Fac Ciencias Universidad Autónoma de Madrid 28049 Madrid Spain Phone 34 91 3978200 FAX 34 91 3978202 2 Unité de Génétique des Mammifères Institut Pasteur 75724 Paris France Interspecific Consomic strains ICS and Interspecific Recombinant Congenic strains IRCS represent a valuable addition to existing tools for the genetics analysis of cancer predisposition Working on gamma radiation induced thymic lymphoma RITL susceptibility with ICS that carry Mus spretus chromosomes derived from the wild inbred strain STF Pas on a C57BL 6 background we have previously located a thymic lymphoma resistance locus Tlyr1 on mouse chromosome 19 Santos et al 2002 Oncogene 21 6680 6683 In this work an extension of our initial genome screening of RITL susceptibility on ICS has provided evidence for another resistance locus on mouse chromosome 16 located close to the marker D16Mit34 we named as Tlyr2 In this study the Prkdc gene which encodes the catalytic subunit

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file162.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Disease 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 115 GENERATION AND ANALYSIS OF A MOUSE MUTANT DEFICIENT FOR THE ADHESION MOLECULE MADCAM 1 Schippers A German Research Centre for Biotechnology Braunschweig Co Authors 2 Leuker C 3 Gruber A 2 Wagner N 1 Mueller W Institutions 1 German Research Centre for Biotechnology Braunschweig 2 University of Cologne 3 School of Veterinary Medicine Hannover Adhesion molecules are important mediators for lymphocyte migration to normal tissues and to inflammatory tissue sites The mucosal addressin cell adhesion molecule 1 MAdCAM 1 acts as an endothelial cell ligand for leukocyte homing receptor L selectin and α4β7 integrin and is normally expressed in mucosa associated lymphoid tissue and spleen It is thought to have a specific function in the correct formation of the marginal zone in spleen and lymphocyte homing in peyers patches and the intestinal lamina propria Using a conditional mutagenesis strategy we successfully targeted the MAdCAM 1 gene In contrast to previous speculations the MAdCAM deficient mouse line is viable and exhibits no obvious

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file163.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Biology and Biochemistry Co Authors 1 Charalambous M 2 Bennett W R 1 Crew T E 3 Mackenzie F 1 Ward A Institutions 1 University of Bath Centre for Regenerative Medicine Department of Biology and Biochemistry 2 University of Manchester UK Centre for Tissue Engineering 3 Medical Research Council Mammalian Genetics Unit Harwell UK Growth Factor Receptor bound protein 10 Grb10 is a member of the Grb7 family of SH2 domain containing adaptor proteins Murine Grb10 is a maternally expressed gene located on proximal chromosome 11 and mice with uniparental disomy UPD of this region exhibit reciprocal growth phenotypes with pUPD resulting in overgrowth and mUPD in growth retardation The equivalent human chromosomal region 7p11 2 p13 is associated with Silver Russell Syndrome SRS which is characterised by pre and post natal growth restriction with mUPD7 occurring in 7 of cases Grb10 is therefore a candidate gene responsible for the imprinted growth effects of UPD11 in mice and for SRS in humans In vitro interactions of Grb10 with a number of activated tyrosine kinase receptors including Insr and Igf1r have been documented although its function and signalling remain unclear We have generated mice with 36Kb of the Grb10 locus replaced

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file165.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    KRICT Co Authors Cho KH Cho J W Lee P S Kim Y E Cha D S Park H J Kim C M Kang M S Nam Y Y Yoon S J Han S S Institutions Korea Institute of Toxicology KIT Korea Research Institute chemical of Toxicology KRICT ENU mutagenesis has been carrying out since 1999 in Korea Institute of Toxicology KIT Korea Research Institute Chemical of Technology KRICT We have chosen BALB c and C57BL 6 and screened for dominant and recessive mutants Four hundred and twenty one males G 0 have been injected with ENU 150 200 250 and 300 body weight twice one week apart The injected mice were mated with 1 898 normal BALB c and 292 C57BL 6 females 4 to 12 females per male One hundred and ninety three G 1 males were chosen and mated to 747 normal females to produce 5 710 G 2 mice Among these 1 384 G 2 females were backcrossed to corresponding parental G 1 males and 10 365 G 3 mice have been obtained from them Two hundred and seventy two G 1 phenodeviants were tested for inheritance and found 26 dominant mutants There were 38 recessive

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file166.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Sanger Institute Co Authors 2 Fuchs H 2 Hrabe de Angelis M 1 Steel KP Institutions 1 Wellcome Trust Sanger Institute 2 GSF Center of Environment and Health Institute of Experimental Genetics Mouse mutagenesis programs have provided a valuable resource to investigate the genetics of many hereditary diseases Mutations are induced using the chemical N ethyl N nitrosourea ENU and offspring are subsequently screened for specific phenotypes including hearing and balance defects Characterisation and mapping of the dominantly inherited progressive deafness mutant Oblivious identified from such an ENU mutagenesis program is presented Oblivious Obl mutants exhibit a normal ear flick response Preyer reflex to a calibrated 90dB SPL 20kHz tone burst at two weeks of age A progressive reduction in this reflex is seen in Obl mutants from 1 2 months with most Obl mutants exhibiting no Preyer reflex by two months Cleared samples of Obl mutant inner ears suggest that the morphology of the inner ear is normal Scanning electron microscopy SEM analysis of the organ of Corti in Obl mutants at three months revealed missing outer hair cells OHC throughout the length of the cochlea with most extensive degeneration and OHC loss present in the base There also

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file167.shtml (2016-02-17)
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