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  • The 16th International Mouse Genome Conference (2002)
    1 Morgan J 1 West K 1 McKie L 3 Clark BJ 2 Brown SDM 1 Jackson IJ Institutions 1 MRC Human Genetics Unit 2 MRC Mammalian Genetics Unit 3 Institute of Ophthalmology We have screened for novel ENU induced mouse mutants that are models for human eye diseases and have produced a collection of 25 mutants with a variety of eye defects For 16 of these the gene affected has been identified and the molecular defect in each case a single point mutation has been found for all but one The characterised mutations include several that are in human eye disease genes and we have mouse models of recessive retinal degeneration Waardenburg syndrome type IIA renal coloboma syndrome and aniridia Seven of these are recessive alleles of Pde6b and form an allelic series in this gene Loss of function mutations in PDE6B cause recessive retinal degeneration in humans The sequence changes in four of our mutants would be predicted to ablate function and have a similar phenotype to the mouse null allele Pde6brd1 The phenotype of the other three is less severe and they have mutations consistent with reduced function The other 18 mutants are dominant Of four Pax6

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file213.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    2 Yi Sun 3 Sigrid C Veasey 4 John Schimenti and 1 2 3 Maja Bucan Institutions 1 Department of Genetics 2 Center for Neurobiology and Behavior in the Department of Psychiatry 3 Center for Sleep and Respiratory Neurobiology University of Pennsylvania 4 The Jackson Laboratory The limited availability of appropriate animal models has hindered research in complex neuropsychiatric illnesses Our approach toward identification of these models involves a the identification of behavioral traits that can be modeled in rodents b identification of mouse mutants with anomalies in these simple behavioral traits c the isolation of genes that underlie these traits and the investigation of their relevance to the same or similar traits in humans Two mutagenesis screens a genome wide recessive screen and a Chr 5 region specific screen currently being undertaken in the lab involve analysis of progeny of chemically ENU mutagenized mice using a set of assays zero maze anxiety rotarod neuromuscular function analysis of the acoustic startle response sensory motor gating wheel running activity and EEG EMG scoring of sleep patterns circadian behavior and sleep patterns This screen identified over 10 rest activity mutants We showed that a semidominant mutation Earlybird that shortens the circadian period

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file214.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Contents Photographs Awards Oral Presentation Monday 18 November 17 15 17 30 HRS COMPLEMENTATION OF MOUSE NEURAL CREST DEFECTS USING LINEAGE DIRECTED GENE TRANSFER WJ Pavan National Human Genome Research Institute Co Authors Dunn KJ Hou L Loftus SK Institutions Genetics Disease Research Branch National Human Genome Research Institute National Institutes of Health Ectopic gene expression in fetal mouse tissues has been a powerful tool for analyzing gene function during development and testing for functional complementation of mouse mutant loci We are using retroviral infection to overexpress genes in a lineage directed manner in mouse embryos in vivo and tissue explants in vitro The approach utilizes an avian leukosis retroviral expression system coupled with a transgenic mouse line expressing the viral receptor tv a from a tissue specific promoter RCAS TV A Federspiel et al 1994 Transgenic lines have been developed expressing the tv a receptor from the mouse melanoblast promoter dopachrome tautomerase In utero infection at E12 5 with an RCAS Tyrosinase virus resulted in complementation of the albino Tyrc mutation in melanoblasts as evidenced by pigmented hairs after birth A neural crest directed tv a transgenic line was developed using the PAX3 promoter Neural tube explants isolated from

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file215.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Rhodes C 1 Quint E 1 Hawker K 1 Pau H 2 Tsai H 2 Hardisty RE 2 Nolan P 2 Peters J 3 Hunter AJ 4 Ahituv N 4 Hertzano R 4 Vreugde S 4 Avraham KB 5 Fuchs H 6 Balling R 5 Hrabé De Angelis M 2 Brown SDM 7 Guénet JL Institutions 1 MRC Institute of Hearing Research 2 MRC Mammalian Genetics Unit 3 GSK 4 Tel Aviv University 5 GSF 6 GBF 7 Institut Pasteur Screens for hearing and balance impairments were added to the ENU mutagenesis programmes in Harwell and Munich and more than 50 new confirmed dominantly inherited mutants were recovered from the 53 000 mice screened in the first three years of the project We have mapped 19 of these new mutants and characterised the phenotype in all of them Six of the mutations have been identified in the Tmc1 Tcfap2 Emx2 Myo7a and Jag1 two mutations genes Tmc1 is a novel gene also shown to be involved in a recessive spontaneous mouse mutation called deafness as well as in several human families segregating deafness Myo7a was previously known to be involved in recessive deafness in shaker1 mouse mutants and in various

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file216.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    CHROMOSOME LH Chadwick Case Western Reserve University Co Authors Willard HF Institutions University Hospitals of Cleveland In order to equalize X linked gene expression between male and female mammals one X chromosome is stably silenced in each female somatic cell While X inactivation is one of the most striking examples of epigenetic regulation relatively little is known about the specific trans acting factors that are involved in this process We are using two complementary approaches to identify such factors and their effects on inactive X chromatin First we are examining expression of X linked genes Utx Smcx and Eif2s3x that are known to escape inactivation in mice Smcx expression from the inactive X Xi was previously shown to be approximately half the active X expression Using an allele specific RT PCR assay we characterized the expression of Utx and found only a 20 reduction in expression from the Xi This difference suggests that local chromatin environment may influence the degree of Xi expression Our second approach is to use these assays as a sensitive marker of inactive X chromatin in an ENU mutagenesis screen to identify dominant mutations that affect levels of Xi expression This screen is complementary to a

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file217.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Rodriguez Zas SL 1 Williams RW 3 Mogil JS Institutions 1 University of Tennessee Health Science Center 2 University of Illinois at Urbana Champaign 3 McGill University Dept of Psychology University of Illinois at Urbana Champaign The possibility of performing in silico mapping of complex traits from the strain allelic distribution patterns of inbred mouse SNPs Grupe et al 2001 has been hailed as an interesting advance in complex trait mapping However concerns have been raised about the arbitrary nature of peak detection employed in this method the redundant use of data from a limited number of strains the high rate of false positive results and the impact of inclusion of outlier strains Chesler et al 2001 Empirical evaluation of this method is complicated by the fact that more genetic diversity is accounted for in a panel of standard inbred strains than in a typical mapping panel often derived from only two progenitor lines Statistical methods of peak detection including permutation resampling of trait data perform slightly better than the arbitrary thresholds for peak detection initially proposed by Grupe et al 2001 and allow users to make informed decisions regarding the control of error rate However a major concern for

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file218.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    well documented associations between host genetics and response to infection in humans These are most evident in the case of malaria where many genetic diseases involving the red blood cell are found in geographic coincidence with malarial endemnicity While association with diseases is relatively straightforward analysis of other genetic resistance factors which are not so obvious in homozygotes are difficult in human populations We have elected to use mouse models to study the genetically determined response in mice in an attempt to identify pathways that may be involved in the regulation of the pathophysiological consequence of disease in humans We have mapped three loci in murine intercrosses which control various aspects of malarial infection Two loci Char1 and 2 control both outcome to infection and peak parasitaemia levels and Char3 controls clearance of parasites from the circulation We have generated congenic mice for each locus and identified minimal congenic intervals still retaining a phenotype distinguishable from the backcross parental line A BAC map has been generated for Cha1 This covers some 3Mb DNA on murine chromosome 9 Approximately 50 of this region has been used to generate BAC congenic animals One line has a malarial phenotype different from the non

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file219.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    S 1 Amstein T 2 Anyango M 1 Mohibullah N 2 Osoti A 2 King R 2 Iraqi F Institutions 1 UT Southwestern 2 International Livestock Research Institute BACKGROUND Prior work with AxB F2 and N2 crosses have defined loci on chr 1 10 and 19 that influence open field OF and Light Dark LD behaviors by quantitative trait loci QTL mapping in mice METHODS Interval Specific Congenic Strains ISCS for the telomeric chr 10 containing the Exq QTL were bred and studied AxB F12 Advanced Intercross Line AIL mice N 1130 and the AxBxA RI strain panel N 26 were also phenotyped genotyped and mapped RESULTS The ISCS data suggest that the Exq locus is composed of two linked loci on distal chr 10 The difficulties of a telomeric location are illustrated The Exq locus mapped robustly with high statistical significance for LD behavior in the AIL Surprisingly the large regions containing OF loci on chr 1 were localized to regions with weakly suggestive LOD scores each explaining 1 of the variance RI strains were relatively unhelpful CONCLUSIONS These results suggest that gene interactions between linked loci may explain some of the non replications and difficulties of genome mapping

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file220.shtml (2016-02-17)
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