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  • 18th International Mouse Genome Conference (2004)
    Knoxville United States 2 Oak Ridge National Laboratory Oak Ridge United States Chromosomal inversions and deletions are valuable genetic tools for functional analysis of the genome We have used homologous recombination to modify the recessive lethal In 15 21Rk inversion to endow it with a dominant visible phenotype Several ES cell lines were derived from inversion heterozygotes and a keratin 14 K14 promoter driven agouti minigene was introduced into the inverted Chr 15 in the ES cells by gene targeting Mice derived from the targeted ES cells carry the inverted Chr 15 and at the same time exhibit lighter coat color on their ears and tails making this modified In 15 21Rk useful as a balancer for proximal mouse Chr 15 In order to map the ENU induced mutations generated by the Neuromutagenesis project of the Tennessee Mouse Genome Consortium to date we have generated three chromosomal deletion complexes by X radiation on the distal half of mouse chromosome 15 centered around the Oc90 Sox10 and Cpt1b genes respectively Large deletions spanning up to 5 Mb in ES cells were recovered from around the Sox10 locus whereas mostly small deletions less than 1 Mb were recovered from Oc90 and Cpt1b

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file181.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Gondo Y RIKEN GSC Yokohama Japan It has become practical to generate and recover mutant mice having ENU induced point mutations in a specific target gene by reverse genetics We have prepared frozen sperms and genomic DNA from over 7 000 G1 male mice for the gene driven approach of ENU mutagenesis How to find the mutations is one of the most important issues in the gene driven approach We

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file182.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    W Kung J Mouse Mutagenesis Program Core Facility Taipei Taiwan In the high throughput breeding environment many hundreds of offspring are generated quickly In order to maintain high level productivity and efficient operation establishment of highly specialized tools is highly critical Here we describe our efforts at generating informatics for our Mouse Mutagenesis Program Core Facility based on technology derived tools that are task oriented effective scalable and configurable so as to serve the needs of all members of this facility The goal of our proposed system known as MosTrack is to provide the necessary tools to manage the daily affairs within the Mouse Mutagenesis Program Core Facility support efforts in maintaining timely data transactions and keeping informed of issues relevant to the mice Overall success of the design and development of the MosTrack system will be attributed to the following key features Flexibility Generic design makes MosTrack more flexible Different users have different and often unique needs MosTrack is easily customized to meet the needs of different user groups Extensibility Modular design is another feature for MosTrack New features can be easily added or modified Visualized Design Visualization helps research assistants and caretakers to efficiently track the history and

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file183.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Houston United States ENU mutagenesis generated six mutant alleles at the mouse Odz4 locus Five of the six alleles cause early embryonic lethality while the sixth one demonstrates defects in skeletal and hematopoietic development The Odz4 gene also called ten m4 encodes a 270kD transmembrane protein and is conserved among human mouse and Drosophila The Drosophila homologue was previously identified to be a pair rule gene and was thought to be involved in a novel signal transduction pathway To elucidate the pathway we set out to identify the interacting partners by both biochemical and genetic methods with the Drosophila gene odz as a starting point 1 By performing yeast two hybrid screening we have identified filamin that may physically interact with the odz protein Filamin is an actin binding protein which is critical for ring canal formation during Drosophila oogenesis The interacting part of odz defined here as FID domain has been determined by deletion mapping The expression patterns of filamin and odz during embryonic development are partially overlapped The mouse Odz4 and FilaminA also have overlapping expression at several embryonic stages The biological significance of this possible interaction in embryonic and later developmental stages is currently under investigation in

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file185.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    human chromosome Due to the high throughput generation of ENU mutants in this project it is essential to have an efficient data organizing system to carry out real time data capture and analysis We have developed a bioinformatics pipeline that helps management of mouse colonies analysis of mutant phenotype screens and web presentation of information of ENU mutants The pipeline includes the following web services components a A virtual mouse barcode system which is a comprehensive web based mouse colony tracking system This system simulates the real mouse facility design and can be employed for any mouse work This system provides advanced securities to track colonies for different institutions PIs labs projects users as well as offer controlled data exchanging among users b A sample submitting and analysis system for phenotypic screenings Complete Blood Counts Hormone Assays and Tandem Mass Spectrometry Analysis which is a web based interface to arrange mutant screening and flag potential mutants based on the standard deviation analysis c A cryopreservation database that is a web based management system for recording organs and DNAs from the ENU mutants d ENU mutant resource a publicly accessible database that presents over 283 ENU mutants in ten different phenotype

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file186.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    is a high throughput quantitative method accurate and sensitive enough to discriminate a two fold difference in the amount of target sequences We investigated the validity of allelic discrimination assay using real time PCR with allele specific probes for the transgene quantification We used DBA 2J 129P3 J TgN Tas1r3 B6 Ge 41Mon mice obtained in a transgenic complementation phenotype rescue experiment The transgene positive mice were either homozygous or

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file188.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Hospital for Sick Children Toronto Canada 3 The Hospital for Sick Children Toronto Canada 4 The Hospital for Sick Children Toronto Canada Background Efficient collection freezing archiving and re derivation of sperm are essential components for random mutagenesis in the mouse The purpose of this study was to determine the effect s of a triple dose of ENU 225 or 300 mg kg total dose on fresh and frozen thawed sperm quality spermatozoa DNA integrity and unassisted in vitro fertility rates in C3B6G 1 and B6129S1G 1 mice that are generated used and maintained in the mutagenesis program at the Centre for Modeling Human Disease in Toronto Methods Sperm was collected from C3B6G 1 and B6129S1G 1 control and ENU mice Sperm assessment parameters included progressive motility plasma membrane integrity concentration membrane function integrity acrosome integrity and DNA integrity To assess the effect s of oocyte donor strain the in vitro fertilization rate embryo culture and live born offspring rates from fresh and frozen sperm from G 1 and age matched control wild type hybrid mice were determined when either of the parental or hybrid strain females were used as oocyte donors Results There were no significant differences in fresh

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file189.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Dept Pediatrics The University of Iowa Iowa City IA United States 3 Center for Cancer Research M I T Cambridge MA United States We observe a large spectrum of recessive phenotypes similar to human congenital disorders including several craniofacial defects in a late embryonic ENU mutagenesis screen Clefting occurs in many known mouse mutants but those with isolated clefts are ideal models of human non syndromic cleft lip palate NSCL P 1 500 1000 live births The cleft palate only 1 cpo1 isolated cleft secondary palate and curly tail cleft palate ctcp cleft secondary palate and or a curly tail mutations are excellent models The cpo1 phenotype is likely hypomorphic due to inefficient splicing of a Zn finger transcription factor on chr 4 Hs 1p36 A specific defect in palatal shelf elevation is evident upon histologic evaluation cpo1 gene expression during craniofacial development is consistent with its playing an important role in palatogenesis We identified three potential etiologic missense mutations in a screen of human NSCL P cases from Iowa and the Philippines and a CPO1 haplotype is in strong linkage disequilibrium with Filipino NSCL only and shows a borderline association with Iowa NSCP only thereby supporting an important role

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file190.shtml (2016-02-17)
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