archive-org.com » ORG » I » IMGS.ORG

Total: 854

Choose link from "Titles, links and description words view":

Or switch to "Titles and links view".
  • The 16th International Mouse Genome Conference (2002)
    Comparative Analysis of Genomes Attendees Sponsors Table of Contents Photographs Awards POSTER 43 NODE AND MIDLINE DEFECTS ARE ASSOCIATED WITH LEFT RIGHT DEVELOPMENT IN DELTA1 MUTANT EMBRYOS G Przemeck GSF National Research Centre for Environment Health Heinzmann U Beckers J Hrabe de Angelis M GSF National Research Centre for Environment Health Axes formation is a fundamental process of early embryonic development In addition to the antero posterior and dorso ventral axes the determination of the left right L R axis is crucial for the proper morphogenesis of internal organs and is a distinctive feature of vertebrates Genes known to be required for the normal establishment and or maintenance of L R asymmetry in mammals include for example components of the TGF b family of intercellular signalling molecules and genes required for node cilia function Here we report that Delta Notch signalling which had not been implicated in this morphogenetic process so far is required for normal L R determination in mice We show that the loss of function of the Delta1 gene causes a situs ambiguous phenotype including randomisation of the orientation of heart looping and embryonic turning A possible cause for this L R defect in Delta1 mutant embryos

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file43.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    Baylor College of Medicine Zhong L Tran N Justice M Baylor College of Medicine Houston USA The Mouse Mutagenesis for Developmental Defects project utilizes ENU as a powerful mutagen in mouse spermatogonial stem cells By determining the function of genes on a mouse chromosome we can extrapolate to predict function on a human chromosome To centralize the enormous amount of data generated in this project and present them to the mouse community we are designing a web based data handling system It includes a virtual mouse facility management package with barcode system a data recording system for various phenotypic screenings a barcode system for frozen sperm online mouse request databases and an email alert system of new mutants for registered mouse users To maximize benefit to the mouse community we have recently been developing a system to bridge the public data view with the archived raw data Researchers can access the password protected website and instantly access the selected data available to public Therefore our data handling system can be accessed at different levels depending on the user privileges assigned To efficiently record the data from the mutants the virtual mouse management with barcode system has been developed with substantial

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file44.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    Aging Section Laboratory of Genetics National Institute on Aging NIH Puri N Borgmeyer C Ritter D Seidman M Ko M NIA Mouse preimplantation development encompasses embryo development from fertilization up until implantation Many complex developmental events take place during this period including the transition from maternal to zygotic transcription establishment of embryonic axes and formation of the blastocyst the first mammalian differentiation event Using a multi faceted approach we aim to identify and study genes with key roles in these processes Our study utilizes the unique resource of the NIA cDNA clone set which contains many novel full length ESTs representing all mouse preimplantation stages This clone set provides the basis for microarray experiments enabling us to study global gene expression and assemble gene expression profiles In addition we are using EST frequency in individual libraries to identify genes with restricted expression profiles implying a role at specific stages of preimplantation development These studies are complemented with functional assays including gene knockouts in vitro expression analysis and gene knock down experiments using antisense technology As a prelude to the application of antisense oligonucleotides technology to gene expression studies in preimplantation embryos in vitro we have evaluated the effect of a

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file45.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    1 WT1 ISOFORMS WT1 KTS AND WT1 KTS IN MURINE UROGENITAL DEVELOPMENT D Lahiri University of Bath Dutton JR Ward A University of Bath The Wilms Tumour suppressor gene WT1 encodes a zinc finger transcription factor that is essential for correct development of the urogenital system alternative splicing of the zinc finger region causes an insertion of deletion of three amino acids creating two classes of isoform WT1 KTS and WT1 KTS Mutation of these isoforms and disruption of the isoform ratios are linked to Denys Drash and Frasier syndromes in which abnormalities of the urogenital system occur These isoforms are thought to have distinct roles within the nucleus with WT1 KTS implicated in splicing whilst WT1 KTS acts as a transcription factor We have generated mice overexpressing WT1 KTS by creating transgenic lines expressing a WT1 KTS transgene and bred them with WT1 knockout animals to study the effects of the WT1 KTS isoform on genito urinary development in isolation from the other isoforms Preliminary data shows that males expressing the WT1 KTS transgene and heterozygous for WT1 are sterile Using green fluorescent protein fusion constructs in cell culture we demonstrate that the dynamic subnuclear localisation of the two

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file46.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    ROLE IN GAMETE DEVELOPMENT B Lu Baylor College of Medicine 1 Truong C 1 Agoulnik A 1 2 Bishop C 1 Department of Obstetrics Gynecology 2 Dept of Molecular Human Genetics Baylor College of Medicine The Germ Cell Deficient gcd mutation is a recessive transgenic insertional mutation leading to a deficiency of primordial germ cells PGC and consequent adult male and female sterility Here we show that the PGC deficiency is caused by impaired PGC proliferation rather than abnormal migration In addition we show that the deletion of a single gene Pog proliferation of germ cells underlies the gcd phenotype Pog is necessary for normal proliferation of PGC s but not spermatogonia since in gcd gcd and Pog mice the few stem cells produced are capable of eventually repopulating the seminiferous tubules POG is also expressed in the adult testis and ovary and interacts with a novel germ cell specific gene Gems germ cell specific with multiple splicing In the testis it was expressed specifically in the meiotic stages of spermatogenesis Gems has more than 10 different splice variants giving rise to three proteins GEMS1 GEMS2 and GEMS3 GEMS1 was localized to the nuclear membrane GEMS2 to the cytoplasm and

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file47.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    ENU INDUCED HYPOMORPHIC ALLELE J Vivian University of North Carolina Chapel Hill Chen Y Magnuson T University of North Carolina An efficient means of creating an allelic series of subtle mutations in the mouse non null mutations in particular would greatly aid the analysis of complex gene function Smad2 is an intracellular transcriptional regulator activated by TGFb nodal and activin signaling The early lethality of targeted Smad2 mutations along with the various protein interactions and signaling pathways mediated by this factor suggested that Smad2 would be excellent an candidate for the development of an allelic series of subtle mutations Our laboratory has recently extended a chemical mutagenesis strategy in mouse embryonic stem cells to identify ENU induced mutations in non selectable loci Using this methodology we have identified several subtle mutations within the coding region of Smad2 In vivo analysis of a germline mutation obtained in this screen identifies this mutation to be hypomorphic in character allowing for functional analysis of Smad2 in later embryonic stages than allowed by the available targeted alleles A variety of defects are observed in these Smad2 mutants by E8 5 including defects in the formation of anterior neurectoderm dorsal aorta foregut heart and anterior

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file48.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    Contents Photographs Awards POSTER 49 A SENSITIZED MUTAGENESIS SCREEN FOR NEURAL CREST DEFECTS GE Elliott National Human Genome Research Institute Baxter LL Pavan W J Genetics Disease Research Branch National Human Genome Research Institute National Institutes of Health Mice with a mutation in the transcription factor Sox10 Sox10lacZ exhibit developmental neural crest defects as evidenced by hypopigmentation reduced melanocyte numbers and megacolon reduced enteric ganglia due to apoptosis of these neural crest derivatives We have previously shown that synergistic enhancement of these defects are seen when Sox10lacZ occurs as a double heterozygote with a subset of neural crest mutant loci ie Mitf ENU mutagenesis can be targeted towards revealing additional genes in specific disease developmental pathways by combining the ENU with a sensitization screen where mutations are assessed on a strain background already destabilized by a known mutation This is a powerful addition since a mutation that alone may not have a phenotype in the heterozygous state will be revealed when present in combination with another heterozygous mutation We are undertaking a screen to discover genes important in neural crest development The offspring of mutagenized mice and Sox10Dom mice will be screened for a synergistic increase in hypopigmentation and megacolon

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file49.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    P Gruver A Medical College of Ohio Genomic integrity is regularly challenged by DNA damage Homologous recombination repair HRR is an error free repair pathway that utilizes homologous DNA as a replication template during the repair of DNA double strand breaks DSBs and interstrand crosslinks The strand invasion step during HRR requires Rad51 a homolog of the E coli RecA protein and six Rad51 paralogs Rad51b Rad51c Rad51d Xrcc2 Xrcc3 and Dmc1 We are investigating the role of the Rad51 paralogs in mice and this presentation will focus on the Rad51d gene A homozygous Rad51d disruption conferred embryo lethality midway through gestation Phenotypes suggest that mutant cells undergo suboptimal repair of DNA damage presumably DSBs resulting in chromosomal rearrangements and cell death To determine whether a mutation in the tumor suppressor gene Trp53 circumvents cell cycle checkpoint mechanisms embryos deficient for Rad51d and Trp53 were generated The double mutants survived five days longer than Rad51d embryos and a wide range of mutant phenotypes included developmental delay blood islands and exencephaly Consistent with Rad51d being involved in DNA damage repair fibroblast cells cultured from the mutant embryos were highly sensitive to mitomycin C and methyl methanesulfonate moderately sensitive to X rays

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file50.shtml (2016-02-17)
    Open archived version from archive



  •