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  • 17th International Mouse Genome Conference (2003)
    A GENOME WIDE APPROACH FOR IDENTIFICATION OF MODIFIER GENES OF HIRSCHSPRUNG DISEASE IN THE SOX10 DOM MOUSE MODEL Owens S Vanderbilt University Co Authors Chandler R Southard Smith M Institutions Vanderbilt University Hirschsprung disease HSCR is caused by abnormal development of the neural crest cells that comprise the enteric nervous system resulting in an absence or reduction of enteric ganglia in a variable portion of the distal gastrointestinal tract Dominant megacolon Sox10 Dom mice model the aganglionic megacolon seen in HSCR and SOX10 mutations have been identified in a subset of HSCR patients Sox10 Dom heterozygote mice on a mixed genetic B6C3F1 background mimic the variable severity of aganglionosis in HSCR patients Analysis of B6 Sox10 Dom and C3Fe Sox10 Dom congenic lines demonstrates that this variation is influenced by genetic background To establish linkage to modifier genes that modulate the severity of aganglionosis in Sox10 Dom mice we initiated a genome wide scan Intestinal aganglionosis was quantified by whole mount acetylcholinesterase AChE histochemistry on gastrointestinal tracts from postnatal day 7 10 backcross n 204 and intercross n 1092 progeny Mice from the extremes of the phenotype distribution are being genotyped by fluorescence polarization methods to distinguish 150 SNP markers

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file227.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Institut für Molekulare Biotechnologie IMB Jena Co Authors 2 Monti J 1 Tänzer S 3 Scharfe M 2 Gösele C 1 Glöckner G 1 Galgoczy P 2 Liska F 3 Blöcker H 2 Hübner N Institutions 1 Institut für Molekulare Biotechnologie IMB Jena 2 Max Delbrück Centrum für Molekulare Medizin MDC Berlin Buch 3 Gesellschaft für Biotechnologische Forschung GBF Braunschweig The rat is a major animal model for experimental investigations of complex diseases Rat strains reflecting human complex diseases have become an important reductionist tool and have been used for the identification of multiple QTL So far a large number of disease associated QTL has been identified in co segregation studies of rat intercrosses Clusters of overlapping disease loci were identified on rat chromosomes 1 and 10 determining especially cardiovascular phenotypes like hypertension renal failure diabetes and stroke Alignment of the rat genomic sequence with maps from human and mouse enables the construction of comparative maps and the consideration of candidate genes in defined intervals Ultimately high quality sequence will be required in the relevant QTL region Therefore bacterial clones were mapped to the respective QTLs In the initial sequencing phase BACs were end sequenced Following based on selected clones

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file228.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Genomics Institute Wadsworth Center NYState Dept of Health Co Authors Bolivar V J Isabelle J Symula D Flaherty L Institutions The Genomics Institute Wadsworth Center NYState Dept of Health We are using knockout congenic mouse strains as a system for isolating and mapping quantitative trait loci Because most of knockout strains are bred to B6 for a number of generations we developed a breeding scheme to distinguish the effects of 129 flanking sequences from the targeted ablation To evaluate our scheme we screened several knockout congenic strains in a battery of behavioral tests and found that the B6 129 IL10 congenic strain behaves differently from C57BL 6J B6 in our open field test Using newly developed subcongenic strains made in our laboratory we determined that the gene s influencing this open field trait maps to a 50 Mb 129 derived region proximal to the IL10 gene on chromosome 1 and clearly distinguishable from IL10 Microarray analysis Affymetrix 430A and B chips was undertaken to identify genes that are expressed differently between the subcongenic and its inbred partner Specific regions of the brain were examined including the amygdala and hippocampus known to influence performance on the open field test In amygdala

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file229.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Table of Contents Sponsor Exhibitor List Awards Photographs POSTER 182 FINE MAPPING OF QTL S UNDERLYING IMMUNITY TO SALMONELLA TYPHIMURIUM IN WILD STRAIN MICE Sancho V McGill University Co Authors Lacroix G Malo D Institutions McGill University Salmonella Typhimurium is a ubiquitous pathogen that infects both mice and humans manifesting typhoid like systemic fever in mice and salmonellosis in humans Previous studies have shown that the wild derived inbred mouse Mus musculus molossinus MOLF Ei are extremely susceptible to infection by Salmonella Typhimurium despite the presence of functional alleles at known Salmonella susceptibility loci such as Slc11a1 Nramp1 and Tlr4 Crosses between C57BL 6J and MOLF Ei has lead to the identification of two novel QTLs Ity2 and Ity3 that influence survival time during Salmonella Typhimurium infection Ity2 is a resistance locus on chromosome 11 located between D11Mit79 and D11Mit13 whereas Ity3 is a susceptibility locus on chromosome 1 located approximately 25cM distal to Slc11a1 We have developed congenic strains to carry out fine mapping of Ity2 B6 MOLF Slc11a1 Gly169 Ity2 and Ity3 B6 MOLF Slc11a1 Gly169 Ity3 Four Ity2 congenic lines were challenged with Salmonella Typhimurium and resistance to infection was measured using survival analysis This analysis suggests

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file230.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    POSTER 183 ANALYSIS OF MODIFIER LOCI FOR THE NEUROLOGICAL AND THE SPERMIOGENESIS PHENOTYPE OF THE WOBBLER MOUSE Schmitt John T Developmental Biology and Molecular Pathology University of Bielefeld Co Authors Mussmann A Heimann P Jockusch H Ulbrich M Institutions Developmental Biology and Molecular Pathology University of Bielefeld The recessive wobbler wr mutation of the mouse causes a spinal muscular atrophy SMA a progressive degeneration of motoneurons which secondarily leads to an athophy of skeletal muscles The wobbler mouse serves as an animal model for human SMAs and the amyotrophic lateral sclerosis ALS Besides the neurological effect the wobbler mutation causes a spermiogenesis defect leadingto roundheaded sperms and male infertility comparable to human globozoospermia In different crosses we observed a wide variation of the severity of both phenotypes QTL mapping was performed and independent modifier loci for both the neurological and the spermiogenesis wobbler phenotype could be mapped One of the neurological modifier loci wrmod1 on Chr 14 could be confirmed by breeding partially congenic animals and a candidate interval was defined by recombination events Within this interval the genes coding for the light and the middle neurofilament subunit Nfl and Nfm are located which were considered as positional and physiological

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file231.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    Van Roy F Libert C Institutions Unit for Molecular Genetics of the Mouse Department of Molecular Biomedical Research VIB RUG Ghent Belgium Tumor Necrosis Factor TNF is a cytokine with a potent antitumor activity TNF is able to specifically regress tumors in vivo with high efficiency TNF is also a pro inflammatory cytokine Injection of TNF in patients or experimental animals induces a Systemic Inflammatory Response Syndrome resulting in hypotension multiple organ failure bowel necrosis liver damage and ultimately death The use of TNF has therefore been limited to local treatment of tumors TNF is also centrally involved in a number of diseases such as rheumatoid arthritis inflammatory bowel disease asthma MS and sepsis We have previously shown that SPRET Ei mice an inbred strain derived from the species Mus spretus and C57BL 6xSPRET Ei F1 mice in contrast to C57BL 6 mice display an extreme resistance to TNF induced lethal shock and to TNF induced gene expression e g of the IL 6 gene 1 Thanks to this phenotype tumor bearing C57BL 6xSPRET Ei F1 mice can be successfully treated using TNF and IFNγ resulting in tumor regression but much reduced toxicity Using an interspecies backcross we have shown that loci conferring resistance to TNF are located on distal chromosome 6 and proximal chromosome 2 A locus conferring sensitivity is located on distal chromosome 11 In the current study we have performed a more detailed analysis of in vivo signalling after TNF injection in SPRET Ei compared to C57BL 6 Iκ Bα degradation and hence NF κ B translocation seems to occur as efficiently in SPRET Ei and C57BL 6xSPRET Ei F1 as in C57BL 6 However there seems to be less ERK and JNK activation in SPRET Ei and C57BL 6xSPRET Ei F1 compared toC57BL 6 Inhibition of

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file232.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    THE MOUSE Taylor A MRC Institute of Hearing Research Co Authors Nogueira C Steel KP Institutions MRC Institute of Hearing Research bronx waltzer bv is a recessive mutation in the mouse which has been localised to chromosome 5 between 111 3Mb and 113 4Mb Homozygous mice exhibit hyperactivity head tossing and circling behaviour due to vestibular dysfunction together with degeneration of inner hair cells IHCs in the cochlea resulting in deafness When we bred an interspecific backcross between bronx waltzer and Mus castaneus we detected better hearing responses and less severe behavioural abnormalities in some homozygous backcross mutant mice In order to identify the genetic factor s that influence the behaviour and the hearing ability of the bv mice all 241 backcross mice were subjected to a detailed behavioural investigation and a genome scan was performed QTL analysis was used to localise modifiers of the bv bv phenotype A significant modifier on Chromosome 4 near D4Mit72 LOD 4 14 that affects ambulation behaviour in an open field was identified A suggestive modifier LOD 3 26 affecting the variation in total scores for all the measures was mapped near D4Mit305 For the Preyer reflex a suggestive modifier near D17Mit46 was identified

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file233.shtml (2016-02-17)
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  • 17th International Mouse Genome Conference (2003)
    ENU MUTAGENESIS SCREEN FOR EPIGENETIC MUTATIONS IN THE MOUSE Thorvaldsen J University of Pennsylvania Co Authors 2 Percec I 3 Krapp C 4 Singer E 5 Nadeau J 6 Willard H 7 Bartolomei M Institutions 2 University of Pennsylvania 3 University of Pennsylvania 4 University of Pennsylvania 5 Case Western Reserve University 6 Duke University 7 HHMI and University of Pennsylvania The mammalian epigenetic phenomena of X inactivation and genomic imprinting are incompletely understood X inactivation equalizes X linked expression between males and females by silencing genes on one X chromosome during female embryogenesis Genomic imprinting functionally distinguishes the parental genomes resulting in parent specific monoallelic expression of particular genes N ethyl N nitrosourea ENU mutagenesis was used in the mouse to screen for mutations in novel factors involved in X inactivation Previously we reported mutant pedigrees identified through this screen that segregate aberrant X inactivation phenotypes and we mapped the mutation in one pedigree to chromosome 15 Science 296 1136 We now have mapped two additional mutations to the distal chromosome 5 and proximal chromosome 10 in a second pedigree and show that each of the mutations is sufficient to induce the mutant phenotype We further show that the

    Original URL path: http://www.imgs.org/Archive/abstracts/2003abstracts/file234.shtml (2016-02-17)
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