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  • 18th International Mouse Genome Conference (2004)
    Clay Center NE United States 4 Indiana University Purdue University Indianapolis Indianapolis United States All vertebrates have pituitary glands composed of specialized hormone producing cells The individual hormones are evolutionarily conserved although their function varies across the classes of Animalia For example prolactin influences libido maternal behavior and lactation in mammals while it regulates the fish response to salinity and it facilitates learning territorial bird songs Even prochordates such as Ciona savignyi have pituitary like hormones that function in regulation of growth and gonadotropin production suggesting that the genes regulating pituitary organogenesis may be conserved throughout the phylum Chordata The first known pituitary specific gene in the genetic hierarchy is Prop1 a paired like homeodomain transcription factor PROP1 mutations are the most common known cause of multiple pituitary hormone deficiency in humans and mice homozygous for either the spontaneous Ames dwarf mutation or the targeted null allele are good models for the human disease We determined the sequence of the PROP1 gene in five primates including human gorilla baboon howler monkey and lemur and compared them with the sequences of PROP1 in other orders of mammals including species representing Rodentia Carnivora and Artiodactyla as well as distantly related vertebrates such

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file30.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    the efforts of the geneticist to build the link between genomics and biology Mutagenized genomes harboring chemically induced base pair changes represent a rich source of novel genetic variation and can now be produced using either whole animals or ES cells This variation can be tapped using direct sequencing or phenotype based screens Phenotypic screens can be designed to survey the entire genome a defined chromosomal region or sensitized to

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file7.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    the redears mouse is an intriguing model of inflammatory disease and thrombocytopenia Animals homozygous for the redears rd mutation develop spontaneous inflammatory lesions of the ears and tail characterised by necrosis edema epithelial thickening and leukocyte infiltration Neutrophils are the predominant infiltrating cell and neutrophilia is observed in the peripheral blood and spleen Chemotaxis and apoptosis are perturbed in rd rd neutrophils suggesting these cells are playing a key role in driving the inflammatory process Unexpectedly blood platelet numbers are dramatically reduced in rd rd animals and a thorough analysis of platelet biogenesis confirms this is the result of defects in the platelet precursor cell the megakaryocyte rd rd megakaryocytes undergo an abnormal maturation characterised by gross morphological abnormalities increased ploidy and abortive platelet shedding We have identified a mutation in a gene related to the yeast a ctin i nteracting p rotein Aip1 in rd rd mice While its exact role remains controversial Aip1 interacts with and increases the activity of cofilin a key regulator of actin polymerisation Our data suggests the rd mutation is hypomorphic and confirm that actin dynamics are dysregulated in rd rd neutrophils This provides an explanation for chemotactic deficiencies and in conjunction with recent

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file31.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    STRUCTURE AND SNP HAPLOTYPE MAPPING Wade CM 1 Frazer KA 3 Kulbokas EJ 2 Cox DR 3 Linblad Toh K 2 Daly MJ 1 1 Whitehead Institute Cambridge MA United States 2 Broad Institute of MIT and Harvard Cambridge MA United States 3 Perlegen Sciences Mountain View CA United States SNP haplotype mapping is promising to be an important method for mapping genes contributing to complex phenotypes To facilitate this we are embarking upon a large scale SNP haplotype map of the common inbred laboratory mouse strains This exciting undertaking promises to enhance the results of prior QTL mapping experiments and can be particularly powerful for narrowing causative regions when mapping data are available from three or more inbred laboratory mouse strains A recent collaboration using Perlegen Sciences arrays has revealed for the first time the fine structure of SNP haplotypes in the mouse genome over several megabases at 5 different genomic locations The data strongly support previous assertions that the ancestral segment size in inbred laboratory mice is in the order of one to two megabases While inbred mouse phylogeny may at first glance appear to be complicated at a local level the individual strains can be readily ascribed

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file32.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    1 MRC Human Genetics Unit Edinburgh United Kingdom 2 Wellcome Trust Sanger Institute Hinxton United Kingdom 3 Scripps Research Institute La Jolla United States 4 MRC Rosalind Franklin Centre for Genomics Research Hinxton United Kingdom 5 MRC Mouse Genome Centre Harwell United Kingdom 6 Baylor College of Medicine Houston United States The region of chromosome 4 around the Tyrp1 locus has been studied for many years initially as a target for radiation mutagenesis in the specific locus test which generated numerous deletions and other rearrangements Historically these deletions served to define essential genes mapping in the region by examination of the phenotypes of homozygous and compound heterozygous deletion carriers Subsequently the deletions have allowed screening for chemically induced mutations Over 25 recessive ENU mutations have been isolated that map to this chromosomal interval We produced high quality finished and annotated sequence of a 173 BAC contig across this 22 Mb region and have anchored the sequence to the deletion map The whole region is relatively gene poor and includes a 5Mb region that is devoid of coding sequence but which is nevertheless conserved in other vertebrate genomes We have identified candidate genes for the deletion defined phenotypes l 4 1Rn

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file33.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    CHROMOSOME 9 CAUSES JUVENILE HYDROCEPHALUS Schmidt JV Kalinina EA Steshina E University of Illinois at Chicago Chicago IL United States A series of transgenic mouse lines were generated in our laboratory that carried a minimal promoter driving the lacZ reporter gene These transgenes functioned as enhancer traps expressing lacZ under the control of enhancers located at their individual integration sites One transgenic line demonstrated expression in the epiphysis of the diencephalon at midgestation a tissue that represents the rudiment of the developing pineal gland The mammalian pineal is an enigmatic tissue potentially involved in such functions as circadian rhythms reproduction and aging Hoping to identify the trapped gene expressed in the developing pineal we used anchored PCR to localize the transgene integration to mouse chromosome 9 Upon generation of homozygous transgenic animals this line displayed a lethal juvenile hydrocephalus phenotype Visible hydrocephalus appears by 3 4 weeks of age and progresses to death by 6 8 weeks This phenotype indicates that in addition to trapping a gene involved in pineal development the transgene also disrupted expression of a gene required for normal brain development It is not yet known if these two genes are the same and candidate genes near

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file34.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    MUTAGENESIS Soriano P Fred Hutchinson Cancer Research Center Seattle United States We have developed a versatile high throughput genetic screening strategy by coupling gene mutagenesis and expression profiling technologies Using a retroviral gene trap vector optimized for efficient mutagenesis and cloning genes were randomly disrupted in mouse embryonic stem cells and amplified to construct a cDNA microarray With this gene trap array we demonstrate that PDGF transcriptional target genes can

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file8.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    In the mouse ENU causes point mutations in progenitor spermatocytes We are using ENU mutagenesis to identify genes that modify epigenetic state Transcriptional silencing associated with epigenetic modifications is known to be responsible for parental imprinting and X inactivation in mammals and there is increasing support for the idea that it plays a critical role in differentiation Epigenetic silencing can result in mosaic expression of genes within a tissue termed variegation and between isogenic individuals termed variable expressivity While some of the proteins involved in these processes are known many remain to be identified We have treated male mice carrying an erythroid specific GFP transgene that displays variegation We have screened 610 F1 offspring for dominant mutations and have identified six four are suppressors and two are enhancers of variegation In all of the cases where we have determined the dominance of the mutant alleles we have found the they are semi dominant and homozygous lethal indicating the obligate requirement for the genes that have been hit The semi dominance is consistent with the idea that transcription is determined by a dynamic equilibrium between complexes that silence and those that activate 120 male F1 mice without any dominant mutations have

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file9.shtml (2016-02-17)
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