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  • 17th International Mouse Genome Conference (2003)
    Mammalian Genetics Unit Harwell Co Authors 2 Blake S 2 Hunter AJ 1 Brown SDM Institutions 1 MRC Mammalian Genetics Unit Harwell 2 GlaxoSmithKline Pharmacueticals Harlow Mouse mutants have an important role in studying the pathogenesis of disease and gene function Phenotype driven approaches using ENU mutagenesis have proved a powerful tool in determining gene function The mouse mutant Yoda GENA 110 was identified in a screen of first generation

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file124.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Diabetes QTL and Modifier Loci Group MRC Harwell Oxfordshire UK Co Authors Paul C L Quarterman J M Goldsworthy M Cox R D Institutions Diabetes QTL and Modifier Loci Group MRC Harwell Oxfordshire UK In the UK diabetes affects more than 1 4 million people 3 total population plus at least 1 million undiagnosed Type II diabetes affects approximately 85 of Caucasian diabetes patients and is higher in other populations Diabetes causes substantial morbidity and mortality mainly through cardiovascular disease retinopathy neuropathy kidney disease and through limb amputation as a result of peripheral vascular disease Diabetic nephropathy is one of the most serious complications associated with this disease and is the number one cause of end stage renal disease necessitaing dialysis or transplantation As part of the EURAGEDIC consortium EU FP5 which aims to identify genes that could predetermine whether diabetes sufferers will develop diabetic nephropathy we have been studying a number of mouse lines for diabetic kidney disease Our aim is to identify genes and pathways involved in the development of diabetic nephropathy in mouse models of type II diabetes We have phenotyped seven ENU induced lines for plasma glucose and insulin levels urine analysis and histological measurements of

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file125.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    NATIONAL RESOURCE OF MICE MUTANT IN GENES AFFECTING SEX DETERMINATION AND FERTILITY Bishop CE Baylor College of Medicine Co Authors Poirier C Overbeek P Institutions Baylor College of Medicine We have recently initiated a large scale mutagenesis project using transgenesis and transposon mediated gene trapping This is designed to generate an NIH funded national resource of new mouse strains mutant in genes affecting sex determination and fertility The scheme is based on the rescue of albinism in the inbred FVB N strain by the introduction a tyrosinase minigene flanked by splice acceptors and Sleeping Beauty SB transposable elements Mutants will be detected at two levels Firstly 200 300 founder transgenic families per year will be examined for fertility Any insertional mutants will be identified and the integration sites FISH mapped cloned and sequenced Secondly selected transgenic insertions in particular those on the X and Y will be mobilized using the SB transposase Trasposon jumps will be identified by coat color changes and again the families tested for fertility The insertion sites from such mutants can be rapidly cloned and sequenced by PCR To date we have identified five new transgenic families with defects in fertility and three families showing embryonic

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file126.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    AND DNA ARCHIVING BUILDING A PLATFORM FOR GENOME RESEARCH Boersma A GSF Institute for Experimental Genetics Co Authors Marschall S Peters D Hrabe de Angelis M Institutions GSF Institute for Experimental Genetics During the last years a large number of new mouse mutant lines could be generated e g via ENU mutagenesis As these mutants represent a valuable resource as models for human diseases it is extremely important to preserve all of these strains For this purpose at our institute a large scale sperm and DNA archive has been established The animals to be archived C3HeB FeJ background are mutants from an ENU mutagenesis screen and first generation F1 males descending from ENU treated males The sperm is frozen using French straws according to standard operation protocols which ensure consistent quality Sperm quality is measured using a computerized semen analyzer The rederivation is tested by performing an in vitro fertilization and embryo transfer The laser microdissection of the zona pellucida is used for strains which cannot be recovered using conventional methods At present the archive comprises 1440 ENU mutant males from 404 strains and 3488 F1 males Genomic DNA is extracted from tail clips and or spleens for archiving This

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file127.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Contents Sponsor Exhibitor List Awards Photographs POSTER 80 PATHOGENESIS OF CD4 T CELL MEDIATED INFLAMMATION IN AN AUTOIMMUNE MOUSE MODEL OF PULMONARY DISEASE Bruder D German Research Centre for Biotechnology Braunschweig Germany Co Authors 1 Westendorf AM 1 Geffers R 2 Gruber AD 1 Buer J Institutions 1 German Research Centre for Biotechnology Braunschweig Germany 2 School of Veterinary Medicine Hannover Germany To dissect the immunological and molecular mechanisms underlying autoimmune mediated lung disease CD4 T cell reactivity to a lung specific antigen was studied by transgenic expression of hemagglutinin HA in type II alveolar epithelial cells Concomitant expression of HA and a MHC class II restricted T cell receptor specific for HA in double transgenic mice resulted in the development of severe immune mediated interstitial lung disease Histological examination revealed a progressive interstitial pneumonitis characterized by massive lymphocytic and plasmacytic infiltration of interalveolar septa a clinical picture closely resembling some of the interstitial lung diseases Pulmonary inflammation reached a plateau state in elder mice with prominent formation of lymphoid follicles but reduced interstitial infiltration suggesting the induction of peripheral tolerance mechanisms Extensive immunological characterization of self reactive CD4 T cells isolated from the inflamed lung and global gene expression

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file128.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    KIT Korea Research Institute chemical of Toxicology KRICT Co Authors Nam Y Y Cho J W Song C W Han S S Institutions Korea Institute of Toxicology KIT Korea Research Institute chemical of Toxicology KRICT ENU mutagenesis screening has developed many novel and allelic mutant mice We could already screen 63 dominant and recessive mutations In this study pathological analysis and chromosome localization were carried out about the mutant with hair and skin defect Microgenia The mutant mouse exhibited no teeth the lack of lipid layer in dermis abnormal hair follicle cycle and parakeratosis and early death within 21 days old It could be distinguished from normal littermates at 14 15 embryonic day because it began to have a snout anomaly at that time Its responsible gene was located on Chr 3 Nude like It exhibited total alopecia wrinkled skin and long curved nails This mutant was inherited by an autosomal recessive mode The causative gene was linked to D14Mit193 near hr gene on chromosome 14 Affected skin developed deep dermal cysts and decreased number of hair follicle This mutant might be used as an important model for human disease as papular atrichia Hair poor It had poor and short

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file129.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    MICE Collins K Department of Biomedical Sciences State University of New York Albany Co Authors 2 DiRusso C 1 3 Herron B 1 3 Flaherty L Institutions 1 Department of Biomedical Sciences State University of New York Albany 2 Albany Medical College 3 Genomics Institute Wadsworth Center New York State Department of Health The mutation scraggly sgl causes defects in skin and hair development as well as increased cholesterol ester formation in peripheral tissues The mutation lies on mouse chromosome 19 between the genetic markers D19Mit109 and D19Mit10 These mice also have abnormally low levels or serum cholesterol and triglycerides In examining candidate genes in the region one gene Elovl3 CiG30 a mouse homolog of a yeast fatty acid elongase Elo2 seemed a particularly likely candidate From other studies it is known that similar elongases are responsible for elongating fatty acids from 20 carbons to longer chain compounds and influence cholesterol and phospholipid metabolism Sequencing of Elovl3 in homozygous scraggly mice showed a 4 bp deletion in exon 3 This mutation produces a 1 frameshift and a predicted deletion of 101 amino acids including all fatty acid metabolizing motifs in the protein Since this mutation was induced by chemical mutagenesis

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file130.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    2 Morgan J 1 West K 1 McKie L 1 Brunet J F 3 Brown SDM 2 Jackson I J Institutions 1 MRC Human Genetics Unit 2 MRC Mammalian Genetics Unit 3 Ecole Normale Supérieure One way of revealing gene function is to introduce point mutations into genes using the powerful mutagen ENU and then examine mice carrying the mutations for abnormal phenotypes We have produced a collection of 25 ENU induced mutants with a variety of eye defects For 17 of these the gene affected and the molecular defect in each case a single point mutation has been identified All but one of the characterised mutations are in human eye disease genes and we have mouse models of recessive retinal degeneration Waardenburg syndrome type IIA renal coloboma syndrome aniridia and cataract Included amongst these are mutations that produce loss of function dominant negative and hypomorphic alleles One mutant Dilp1 has dilated pupils and is caused by a sequence change that introduces a stop codon in the first exon of Phox2b It does not complement a Phox2b knock out and when homozygous Dilp1 causes embryonic lethality Phox2b is a homeobox gene important for the development for the autonomic nervous system

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file131.shtml (2016-02-17)
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