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  • 18th International Mouse Genome Conference (2004)
    been implicated in diverse physiological and pathological processes We have previously reported that the knock out mice for the α1G T type channels show an enhanced nociceptive response to visceral pain accompanied by an increase in pain encoding tonic spikes in the absence of burst firing in thalamic relay neurons Science 2003 These results suggested that α1G T type channels are involved in the thalamic sensory gating function blocking the relay of the pain signals to the cortex We have further examined this point by using several different sensory modalities startle responses to auditory or tactile stimuli and responses to chronic inflammatory pain First the mutant mice showed an enhanced startle response to auditory stimulations The enhanced response appeared to be due to a change in the thalamic function instead of a peripheral problem because auditory brainstem recordings ABR which measures primary neural signals induced by auditory stimuli revealed no difference in the response pattern between the two genotypes Second the mutant also displayed an enhanced startle response to tactile stimuli compared to wildtype Third the mutant showed a selective increase in the late phase pain response to an intradermal injection of formalin into the hindpaw a response under the

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file107.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Metropolitan Institute of Medical Science Tokyo Japan 3 Mouse Genomics Resource Laboratory National Institute of Genetics Mishima Japan 4 Mammalian Genetics Laboratory National Institute of Genetics Mishima Japan The wild derived mouse strain MSM Ms belongs to a musculs subspecies group has much different behavioral traits in comparison with C57BL 6 which is a domesiticus subspecies group MSM Ms is more active than C57BL 6 in home cage at night phase And MSM Ms indicates lower activity than C57BL 6 at open field test and Light dark box test It seemed that MSM Ms is hyperactive and more anxious than C57BL 6 For identifying genes involved in the difference of behavioral traits between MSM Ms and C57BL 6 we used consomic strains generated by replacing one of the chromosomes of C57BL 6 by that of MSM As a first step of this project we have characterized the behavioral traits of each consomic strains with the use of home cage activity test and light dark box test As a result C57BL 6 Chr6C MSM which carries MSM locus from D6Mit166 1 1cM to D6Mit12 49 2cM showed lower spontaneous activity and higher anxiety than C57BL 6 And there were no apparent

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file108.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Metropolitan Institute of Medical Science Tokyo Japan 3 Mammalian Genetics Laboratory National Institute of Genetics Mishima Japan 4 Mouse Genomics Resource Laboratory National Institute of Genetics Mishima Japan Open field is one of the widely used methods for measuring emotionality Recently genetic mapping studies have reported some QTLs for open field behavior Most of them used two major variables ambulation and defecation that totaled per test However when a mouse is placed into the open field they show a variety of behavior such as scout and rear to look around or groom their body Also frequency of those behaviors changes with time as the mouse accustomed to the environment In this point of view detailed analysis of the open field behavior is important to understand psychological status of the mice The focus of the present work was to investigate temporal analysis of the detail open field behavior The wild mouse strains were established as inbred strains from wild mice These strains are known to have a large inter strain genetic diversity because they were captured from many countries In the present study we demonstrated the descriptive analysis of the open field behavior by scoring 12 component of the behavior on

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file109.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    States Genotyped based screens in mutagenized mouse embryonic stem cells represent a rapid and cost effective means of generating germline mutations valuable for the functional annotation of the mammalian genome Smad4 is central to the TGF related signaling and is implicated in numerous developmental and disease processes Targeted mutations in Smad4 cause early lethality making the study of its later functions difficult An allelic series of mutations in Smad4 was

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file110.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    major challenges in modern biology is to understand the genetic basis of complex traits such as body weight and fat accumulation Obesity is often associated with many other severe diseases for example hypertension diabetes cardiovascular diseases osteoarthritis and certain cancers In our study we have used the high body weight selected mouse line DU6 and its inbred derivate DU6i which contain the biggest mice known world wide and the mouse lines DBA 2 and DUKs as unselected controls High body weight selected mice are twice as heavy and three times as fat as unselected control mice Furthermore the selection strain DU6 has highly elevated serum concentrations of insulin leptin IGF I and IGF binding proteins So far many QTLs have been mapped for body weight body composition and subcomponents of the endocrine control of growth in the cross between the lines DU6i and DBA 2 Microarray expression analysis showed that 77 genes are differentially expressed in fat tissues between the selected and non selected mouse lines 10 out of 77 genes are located in QTL regions which affect body weight and fat accumulation Semi quantitative real time PCR analysis of these 10 positional candidate genes confirmed the data obtained from

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file111.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    MUTAGENESIS IDENTIFIES A RECESSIVE MUTATION IN A DNAJ PROTEIN THAT RESULTS IN RETARDED GROWTH AND POLYDACTYLY Webb T 1 McKie L 1 West K 1 Peters J 2 Cross SH 1 Jackson I 1 1 MRC Human Genetics Unit Edinburgh United Kingdom and 2 MRC Mammalian Genetics Unit Harwell United Kingdom Chromosomal deletions can be used in mutagenesis stategies that screen for recessive phenotypes Several mouse chromosomal deletions are available which remove the Pax6 gene and result in the small eye phenotype The Pax6 Sey 1H deletion spans 3Mb and includes about 15 genes We have used this deletion in an ENU mutagenesis screen for phenotypes revealed when hemizygous with the deletion We have found one mutation from 233 pedigrees tested The mutation is lethal against the Pax6 Sey 1H deletion Mice heterozygous for the mutation are phenotypically normal When homozygous the mutation is generally recessive lethal by E14 and embryos have retarded growth as early as E9 However some mice are born which are small and have extra digits on one or both hind limbs Sequencing of the genes in the deletion interval identified a splice site mutation in a novel member of the Dnaj family of molecular chaperones

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file112.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    College of Medicine Dept Obstetrics Gynecology Houston United States 2 Baylor College of Medicine Dept Molecular Human Genetics Houston United States The recessive juvenile spermatogonial depletion jsd mutation results in a single wave of spermatogenesis followed by failure of type A spermatogonia to differentiate resulting in adult male sterility We have identified a jsd specific rearrangement in the mouse homologue of the S cerevisiae gene Utp14 provisionally termed mUtp14b Confirmation that mUtp14b underlies the jsd phenotype was obtained by transgenic BAC rescue We also identified a homologous gene on the MMUX mUtp14a which is the strict homologue of the yeast gene from which the intronless mUtp14b has been derived by retrotransposition Expression analysis showed that mUtp14b is predominantly expressed in the germ line of the testis from zygotene through round spermatids whereas mUtp14a although well expressed in all somatic tissues could only be detected in the germ line in round spermatids In yeast depletion of the UTP proteins impedes production of 18S rRNA leading to cell death We propose that the retroposed autosomal copy mUtp14b having acquired a testis specific expression pattern could have provided a mechanism for increasing the efficiency and or numbers of germ cells produced by meeting

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file113.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    it is estimated that 5000 genes are involved in fertility more research is needed to determine novel causes of infertility Towards this goal we have utilized ENU mutagenesis coupled with a balancer chromosome Previously we described the isolation and characterization of a novel male infertility locus on mouse chromosome 11 Clark et al 2004 BOR 70 1317 1324 Three non complementing mutant lines generated by ENU mutagenesis displayed reduced sperm counts and complete loss of sperm motility Additionally defects were found in the ultrastructure of the sperm tail axoneme A candidate gene approach was utilized to determine the gene responsible for the defects Twenty two infertile candidate genes are closely linked to the region of chromosome 11 containing the infertile locus Based on obtaining three alleles in one gene we predicted that the mutated gene is large in size therefore we focused our investigation on Dnahc2 an uncharacterized member of the axonemal dynein heavy chain family which spans approximately 84 kb of genomic sequence Northern blot analysis and real time RT PCR revealed decreased Dnahc2 transcript levels in two of three lines Additionally the infertility in the third mutant line shows tight linkage to Dnahc2 by fine structure mapping The

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file114.shtml (2016-02-17)
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