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  • 18th International Mouse Genome Conference (2004)
    J 1 Ragoussis I 2 Arkell R 1 1 Mammalian Genetics Unit Medical Research Council Harwell Didcot United Kingdom 2 Wellcome Trust Centre for Human Genetics Department of Genomics Oxford United States Holoprosencephaly HPE is a relatively common developmental defect of the forebrain and often the midface in humans that can be due to both genetic and environmental causes and involves incomplete development and septation of midline structures of the central nervous system HPE has a prevalence of 1 250 during embryogenesis and due to lethality of 1 16000 newborn infants During a screen for recessive mutations at a defined region of mouse chromosome 13 Del 13 Svea36H we have isolated several mutants that exhibit HPE as their main embryonic phenotype The phenotype is frequently visible at 9 5 dpc and represented by the typical reduction of the distance between sagittally symmetrical structures of the forebrain optic vesicles etc Monozygosity for the telomeric region of human 6p largely syntenic with Del 13 Svea36H has been associated with HPE in aborted foetuses amongst other craniofacial and congenital abnormalities This points to a new HPE locus in humans and to the possibility that the mutated gene in our mutant lines is the

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file124.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    2 Howard Hughes Medical Institute Ann Arbor United States We previously identified a modifier gene Mvwf1 as the cause of low levels of von Willebrand factor VWF in the inbred mouse strain RIIIS J Mvwf1 is a regulatory mutation in the gene encoding an N acetylgalactosaminyltransferase GALGT2 resulting in a tissue specific switch in gene expression from intestinal epithelium to vascular endothelium This ectopic expression results in aberrant post translational modification of VWF leading to accelerated clearance The specific regulatory DNA sequences responsible for this remarkable transcriptional switch have not yet been identified To further characterize this regulatory mutation we generated transgenic mice with overlapping C57BL 6J bacterial artificial chromosomes BACs These experiments narrowed the genomic region sufficient for wild type C57BL6 J intestine specific Galgt2 expression to 83kb Direct sequence analysis of RIIIS J identified a 35kb region of 2 3 divergence from C57BL6 J flanking Galgt2 exon 1 To address the possibility of intergression we studied strains 2 divergent from Mus musculus Neither Mus spretus nor Mus spicilegus were similar to the Mvwf1 region PCR analysis of 49 strains identified nine strains including four wild derived strains which share 55kb of the Mvwf1 haplotype block and the tissue

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file125.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    OF THE INSULIN SIGNALING PATHWAY IN POLYGENIC OBESITY Ferrell AD Allan MF Pomp D University of Nebraska Lincoln United States An estimated 65 of U S adults are overweight and 30 are obese Polygenic mouse models play a pivotal role in understanding the roles of specific loci in genetic predisposition to obesity We are applying transcriptome mapping whereby gene expression phenotypes are evaluated within a QTL mapping population to identify candidate genes for obesity predisposition and to better understand the genetic architecture of complex traits in general Using a cross between the M16 selected for rapid growth rate for 27 generations and ICR unselected control lines we have created a large n 1200 F 2 population segregating for phenotypes relevant to obesity food consumption and NIDDM We are hybridizing mRNA extracted from liver samples of F 2 mice n 88 with extreme body fat phenotypes to probes for 96 well characterized genes in the insulin signaling pathway This macroarray GEArray Q Series SuperArray contains genes representing insulin receptor associated proteins the PI 3 kinase and MAPK pathways primary targets for insulin signaling secondary effector targets for insulin signaling and targets for PPAR g and SREBP 1 Analyses for gene expression

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file126.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Pinto L 1 Takahashi JS 2 1 Center for Functional Genomics Northwestern University Evanston United States 2 Howard Hughes Medical Institute Evanston United States In the last decade tremendous progress has been made in identifying genes and gene products that appear to be key components of the mammalian circadian clock In mammals genetic screens for circadian rhythms mutations have been limited in both scale and scope We are currently engaged in a large scale ENU mutagensis screen for recessive mutations affecting the nervous system and behavior http genome northwestern edu neuro One of the five domains of primary interest in this project is circadian behavior As a pilot study we conducted a small three generation recessive mutation screen using BTBR J mice Approximately 3600 mice from 217 different mutant pedigrees were screened for abnormalities in circadian locomotor activity Two of these mutant lines produced mice with altered free running periods The first mutant part time is a recessive mutation with a free running period approximately 1 5 hours shorter 21 5 hours than that of wild type mice 23 17 0 22 hrs part time maps to chromosome 10 and is a new mutant allele of the Cryptochrome1 gene The

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file127.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Sakurai T 2 Tsuji T 1 Yanagisawa M 2 Kunieda T 1 1 Graduate School of Natural Science and Technology Okayama University Okayama Japan 2 Howard Hughes Medical Institute Department of Molecular Genetics University of Texas Southwestern Medical Center Dallas United States JF1 Msf is an inbred mouse strain originated from Japanese fancy mice and shows piebald coat color controlled by s a recessive allele of endothelin B receptor Ednrb gene The Ednrb gene plays an important role in differentiation and migration of neural crest cells including melanocytes and ganglion cells and the loss of function of the Ednrb gene cause abnormal coat color megacolon and sensorineural deafness The expression level of this gene is significantly decreased in the s s mice but the exact mutation in the Ednrb gene of s allele has not yet been identified We therefore analyzed the nucleotide sequences of the Ednrb gene in JF1 Msf mouse to reveal the causative mutation of the s allele Southern blot analysis showed an approximately 5 kb insertion in the first intron of the gene Sequencing analysis of this region revealed that the inserted sequence shows similarity with mouse ETn Early retrotransposon Comparison of the transcripts of the

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file128.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    COMPENSATION BY UP REGULATION OF X LINKED GENES MICROARRAY REVEALS TISSUE SPECIFIC DIFFERENCES Nguyen DK Disteche C University of Washington Seattle United States S Ohno 1967 hypothesized that up regulation of genes on active Xchromosome would have occurred together with X inactivation to ensure dosage compensation between X chromosome and autosomes and between the sexes Using microarrays we compared the mean expression of X linked genes against autosomal genes in several tissue types mammalian species and array types The dataset that we analyzed was a combination of 587 arrays collected from different laboratories public databases arrays platforms and tissues from males and females Our analysis showed that overall the mean expression of X linked genes is similar to autosomal genes consistent with up regulation of the X chromosome in all mammalian species examined including mouse rat human and other primates X chromosome up regulation appeared to be largely independent of tissue type gender or types of arrays However there was a marked reduction in the expression of X linked genes in sperm producing testis consistent with X inactivation spermatogenesis Furthermore the ratio of the mean expression of X linked genes versus autosomal genes was significantly higher in the brain tissues

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file129.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    CHROMOSOME 1 APN C3H HEJ CONGENIC STRAIN WITH AN ALTERED DRUG METABOLISM PHENOTYPE Casley WL LeBlanc CA Lavigne L Nowakowska M Health Canada Ottawa Canada The APN mouse shows decreased capacity for caffeine metabolism relative to the C3H HeJ mouse strain We had previously demonstrated the presence of quantitative trait loci QTLs affecting 3 demethylation of caffeine on chromosomes 1 4 and 9 using an APN x C3H HeJ intercross In the present study we compare caffeine metabolism between the APN strain and a congenic strain in which the region carrying a QTL from chromosome 1 from C3H HeJ is isolated on an APN background The congenic interval for this strain is APN C3H D1Mit495 D1Mit292 Phenotyping of the N13 generation demonstrated no significant difference for the QTL trait of caffeine 3 demethylation p 0 31 between the congenic and background strains but a significant difference between the two for the trait of caffeine 7 demethylation p 0 003 The Nr1i3 locus encoding the constitutive androstane receptor CAR lies within the congenic interval CAR is known to regulate several Cytochrome P450 enzymes involved in drug metabolism Hepatic expression of CAR mRNA was determined using a novel RT PCR assay which

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file131.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    artificial chromosomes can refine QTL maps and accelerate the identification of disease genes Academic transgenic facilities may hesitate to provide transgenic rat services because anecdotal evidence suggests that the production of transgenic rats is less efficient than transgenic mouse production To compare transgenic efficiency between rats and mice we first established procedures for superovulation and pseudopregnant recipient production To this end we compared five different superovulation treatments and four methods of pseudopregnancy induction The most productive superovulation treatment was 30 IU PMSG followed by 20 IU HCG 48 hours later The best method to prepare pseudopregnant recipients combined estrus synchronization with LHRH agonist treatment and mating with vasectomized males These procedures reduced the number of egg donors and the number of rats required pseudopregnant recipient production We made three Sprague Dawley SD and one Fischer 344 F344 transgenic rat models by pronuclear microinjection of DNA The efficiency of SD transgenesis was one transgenic founder per four egg donors or 1 8 of injected eggs developed into transgenic founders F344 transgenesis was less efficient one transgenic founder per fifteen donors or 0 7 of injected eggs developed into founders In our experience transgenic efficiency with outbred SD rats is comparable to

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file132.shtml (2016-02-17)
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