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  • 17th International Mouse Genome Conference (2003)
    Co Authors 2 Fujii T 2 Tanaka S 3 Aoki A 2 Shiroishi T Institutions 2 Advanced Studies Natl Inst Genet 3 Natl Inst Genet Juntendo Univ We report a novel gene family named Gasdermin Gsdm which is composed of seven genes Gsdm A 1 A 2 A 3 C 1 C 2 C 3 and GsdmD in the mouse GsdmA 3 was originally identified as a causative gene for the two mouse mutantations Rim3 and Re den which exhibit epidermal hyperplasia Tanaka et al in this conference GsdmA and GsdmC genes form a cluster in the mouse chromosome 11 and 15 respectively and GsdmD was mapped to mouse chromosome 15 Comparison of amino acids sequences revealed that members of the Gsdm family share similar sequences in the N and C terminus Especially in the C terminus all members of the Gsdm family share a well conserved novel leucine rich motif Gsdm family genes were expressed mainly in the gastrointestinal tissues and some of genes were in the skin Expression of GsdmC 2 3 and GsdmD were observed in the small intestine and colon but not in upper gastric tract By contraries GsdmA 1 and GsdmA 2 were expressed in

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file68.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Co Authors 2 Aoki A 3 Sato H 4 Saeki N 5 Tamura M 1 Shiroishi T Institutions 1 Grad Univ Advanced Studies Natl Inst Genet 2 Natl Inst Genet Juntendo Univ 3 Tohoku Univ 4 Natl Cancer Cent Res Inst 5 Natl Inst Genet A mouse skin mutant Recombinant induced mutation 3 Rim3 exhibits dominant phenotype of hyperkeratosis and hair follicle degeneration which arose spontaneously in an intra MHC recombinant strain B10 BR 228 in 1989 Rim3 was mapped to proximity of another mutant Rex denuded Re den in chromosome 11 Both mutants showed resembling skin phenotype and we proposed that Rim3 and Re den are allelic Sato et al 1998 Physical mapping in our previous study had narrow downed the Rim3 critical region to a 200kb region covered by 2 BAC clones We isolated a candidate gene which is expressed both in skin and gastric duct and named Gasdermin Gsdm However no alteration was found in Gsdm of Rim3 and Re den mutants In this study we searched new candidate genes for genome database and found two genes that are paralogues of Gsdm We named this novel gene cluster GasdeminA GsdmA and the three paralogus genes GsdmA1 former

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file69.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 22 IDENTIFY BZW2 AS A UNIQUE MOLECULAR MARKER FOR KIDNEY DESCENDING LIMB OF HENLE LOOP Yu MY Nanjing University Co Authors Sha HB Zeng H Xie W Gao X Institutions Nanjing University By reciprocal BLAST analysis we have identified a gene family in mouse which is homologous to Drosophila elongation initiation factor 5C gene ecp This gene family has four members mapped to chromosome 1 4 12 and 13 respectively We cloned the cDNA of genes on chromosome 1 and 12 named as BZW1 and BZW2 by RT PCR These two genes encode proteins about 50Kd and share 50 homology with Drosophila ECP Northern blotting indicated BZW1 was specifically expressed in adult mouse testis though its mRNA could be detected from embryo as early as gestation day 9 The human counterpart of BZW2 HSPC028 was found deleted in Wilms tumor WT patients Interestingly using an antiserum raised against Drosophila ECP that cross reacts with mouse BZW2 only kidney tissue displayed a specific band by western blot Immunohistochemical analysis showed that BZW2 was expressed at the brush borders of proximal straight tubules of Henle Loop descending limb In

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file70.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    2 Kojima T 2 Hattori M 2 Sakaki Y 1 Moriwaki K 2 4 Shiroishi T Institutions 1 RIKEN BRC 2 RIKEN GSC 3 Kumamoto Univ 4 National Inst Genet MSM Ms is an inbred strain derived from Japanese wild mouse Mus musculus molossinus and shows high level of genetic polymorphisms against standard inbred strains Thus MSM Ms represents useful resource for genetic analyses of various biological phenomena We have constructed an arrayed BAC library from male MSM Ms genomic DNA partially digested with EcoRI The library comprised of 2x10 5 clones with an average insert of 125 kb covering 10X genome equivalent This library can be screened by either colony filter hybridization or PCR of pooled BAC DNA We have sequenced the ends of the BAC clone inserts and mapped end sequence pairs onto the C57BL 6J genome NCBI mouse Build 30 As of July 2003 41 016 clones were unambiguously mapped covering 1 977 198 kb or 79 1 of total genome Comparison of the C57BL 6J and the MSM sequences revealed 253 840 putative SNPs in 28 820 855 bp sequenced Phred 30 Average frequency was estimated to be 89 SNPs per 10 kb Distribution of these

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file71.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    C Regeneron Pharmaceuticals Inc Co Authors Economides A N Murphy A J Kraus P Gale N W Auerbach W Frendewey D DeChiara T M Valenzuela D M Yancopoulos G D Institutions Regeneron Pharmaceuticals Inc We have developed a high throughput and flexible method for engineering the mouse genome This method utilizes Bacterial Homologous Recombination allowing for very precise modification of Bacterial Artificial Chromosomes to generate targeting vectors BACvecs Large deletions 100 kb reporter genes gene swaps as well as subtle changes such as point mutations or conditional alleles can be generated with equal ease as knock out knock in and transgenic alleles The high throughput use of BACvecs as targeting vectors is made possible by a Quantitative PCR based method for identifying targeted Embryonic Stem cell clones which is also utilized for mouse genotyping The process has been industrialized currently with an output of 5 to 6 modified alleles week The high throughput nature of our process empowers its use as a direct genetic approach for target validation and assignment of gene function Since the generation of knock out alleles routinely employs the replacement of the gene of interest with reporter genes such as LacZ we have developed a system

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file72.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    OF THE IMPRINTED GENE NEURONATIN CAUSE A REDUCTION IN PITUITARY SIZE AND GROWTH HORMONE CELL NUMBERS Beechey C V MRC Mammalian Genetics Unit Co Authors 1 Peters J 1 Skinner J 2 Christian H 3 Fischer Colbrie R Institutions 1 MRC Mammalian Genetics Unit 2 University of Oxford 3 University of Innsbruck Mouse distal Chromosome 2 has two imprinting regions one containing a single imprinted gene Nnat and a more distal region containing the Gnas imprinting cluster Uniparental inheritance of the more distal region causes morphological and behavioural abnormalities and early neonatal lethality Uniparental inheritance of the more proximal region appeared to have relatively little effect on phenotype The only effect that had been found previously was decreased folding of the cerebellum when this region is exclusively maternally derived maternal duplication MatDp This effect was attributed to lack of expression of neuronatin Nnat because this gene shows no expression from the maternally derived allele and is expressed exclusively from the paternally derived allele We have now found an effect on the pituitary when the Nnat region is solely paternally derived Thus mice with two paternally derived copies of the region paternal duplication PatDp and therefore two expressed copies of Nnat

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file73.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Awards Photographs POSTER 26 GENETIC MAPPING AND ANALYSIS OF HEAD SLANT hslt A NOVEL VESTIBULAR MUTANT WITH COMPLETE ABSENCE OF OTOCONIA Bergstrom D The Jackson Laboratory Co Authors Gagnon L Bergstrom R Schimenti J Johnson K Institutions The Jackson Laboratory The mammalian inner ear consists of the cochlea required for auditory sensation and the vestibular system required for balance sensation The vestibular system is comprised of the three semicircular canals that detect angular acceleration plus the saccule and utricle and their associated maculae that detect linear acceleration Head slant hslt is a novel spontaneous mutant of mouse encoding a locus required for the normal development and function of the vestibular system Head slant mutant mice display a complete absence of saccular and utricular otoconia inertial masses that shift during linear acceleration Deflection of these otoconia along macular hair cells in normal mice generates a signal that is transmitted to the brain Head slant mice which lack these otoconia display several behaviors consistent with vestibular impairment including circling an abnormal tilting posture impaired righting reflexes and inability to swim The head slant gene resides along the proximal portion of mouse Chromosome 17 within the t complex in an area covered by

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file74.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Verne Chapman Memorial Lecture Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 27 THE ULTIMATE ORF BROWSER ADVANCED SEARCH TOOL AND INFORMATION CENTER FOR THE ULTIMATE ORF CLONE COLLECTION Boyaniwsky T Invitrogen Corporation Carlsbad California Co Authors Parvizi B Yen J Liang F Institutions Invitrogen Corporation Carlsbad California A major challenge following the sequencing of the human genome is to determine the biological functions of the estimated 30 000 50 000 gene transcripts and splicing variants This requires the biochemical characterization of expressed proteins in many expression systems In an effort to accelerate the research in functional genomics and protein expression in a high throughput fashion Invitrogen launched an ORFeome program to provide high quality sequence verified ORFs Open Reading Frames in a Gateway compatible entry vector In order to facilitate researchers to find ORFs in our ORFeome database we have developed a web based ORFBrowser This ORFBrowser allows researchers to find the Ultimate ORF clone they need blasting by sequence searching by keyword accession number clone ID Unigene ID LocusLink ID or browsing through Gene Ontology GO a dynamic controlled vocabulary used to annotate all eukaryotic genes Each ORF has been extensively annotated in the format of an

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file75.shtml (2016-02-17)
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