archive-org.com » ORG » I » IMGS.ORG

Total: 854

Choose link from "Titles, links and description words view":

Or switch to "Titles and links view".
  • The 16th International Mouse Genome Conference (2002)
    OF DOWN SYNDROME L E Olson Johns Hopkins University School of Medicine Co Authors Reeves RH Institutions Johns Hopkins University School of Medicine Down syndrome DS the most common viable autosomal aneuploidy is caused by trisomy 21 However the mechanism by which increased gene dosage causes any specific DS feature is not yet established A Down syndrome critical region DSCR of Chr 21 has been proposed based on determining the smallest region in common among partially trisomic individuals who display the same DS feature Most reports include a region of about 5 Mb 15 of Chr 21 in band q22 2 3 containing approximately 30 genes To date there has been neither a DS individual nor a mouse model trisomic for the DSCR alone Using Cre LoxP chromosomal engineering we have created a deletion and a duplication of the DSCR in ES cells We targeted LoxP sites to the proximal and distal borders of the DSCR conserved on mouse Chr 16 These loxP sites are separated by 3 9 Mb in trans after two homologous recombination events Transient transfection of Cre recombinase induced recombination between the two LoxP sites resulting in a reciprocal deletion and duplication of the DSCR These

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file253.shtml (2016-02-17)
    Open archived version from archive


  • The 16th International Mouse Genome Conference (2002)
    AND THEIR INTERACTIONS IN A C57BL 6ByJ 129P3 J F2 INTERCROSS V Botchkarev Monell Chemical Senses Center Bachmanov A Reed D Li X Beauchamp G Tordoff M Monell Chemical Senses Center Consumption of ethanol solutions by rodents in two bottle choice tests is a model to study human alcohol intake Mice of the C57BL 6ByJ strain have higher ethanol preferences and intakes than do mice of the 129P3 J strain F2 hybrids between these two strains were phenotyped using two bottle tests involving a choice between water and either 3 or 10 ethanol High ethanol preferences and intakes of the B6 mice were inherited as additive or dominant traits in the F2 generation A genome screen using these F2 mice identified three significant linkages Two loci on distal chromosome 4 Ap3q and proximal chromosome 7 Ap7q strongly affected 10 ethanol intake and weakly affected 3 ethanol intake A male specific locus on proximal chromosome 8 Ap8q affected 3 ethanol preference but not indexes of 10 ethanol consumption In addition six suggestive linkages on chromosomes 2 9 12 13 17 and 18 affecting indexes of 3 and or 10 ethanol consumption were detected The loci with significant and suggestive linkages accounted

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file1.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    Menzies JA Centre for Biologics Research Health Products and Food Branch Health Canada The APN mouse was derived from an outbred Swiss Webster line and shows decreased capacity for caffeine metabolism relative to other inbred mouse strains We have previously demonstrated the presence of quantitative trait loci QTLs affecting caffeine 3 demethylation on chromosomes 1 4 and 9 using an APN x C3H HeJ intercross In the present study we have generated three congenic strains to isolate the chromosomal regions containing the QTL alleles from the C3H HeJ donor onto an APN background Congenic strains were developed using marker assisted selection with average marker spacing of 17 5cM The caffeine 3 demethylation C 3 D index phenotype was determined at each generation After the sixth backcross generation sibs from each line were inbred to produce animals homozygous for the congenic interval These lines are presently in the second generation of inbreeding The congenic intervals defined for these strains are APN C3H D1Mit495 D1Mit292 APN C3H D4Mit26 D4Mit232 and APN C3H D9Mit196 D9Mit97 Phenotyping of the N6F2 animals for each strain showed that the strains harbouring chromosome 4 or 9 segments maintained an elevated C 3 D index while the strain

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file2.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    4 Morten J 5 McPheat W 2 Alexander J 2 Andrew PW 1 Brown SDM 1 MRC Mammalian Genetics Unit 2 University of Leicester 3 Johns Hopkins University 4 Research and Development Genetics AstraZeneca 5 Cell Biology and Biochemistry AstraZeneca Streptococcus pneumoniae is responsible for the majority of cases of community acquired pneumonia and is also a significant cause of meningitis bacteremia and otitis media in children Antibiotic drugs are the standard therapy and vaccination offers protection against a spectrum of pneumococcal serotypes but horizontal gene transfer may ultimately negate the effectiveness of both vaccines and antibiotics It is clear that a better understanding of the host response to this bacterium is essential for improved preventative and therapeutic treatments There is a significant genetic contribution to host susceptibility to pneumococcal infection but the limited numbers of case confirmed pedigrees or sibling pairs preclude linkage analysis We have therefore developed a genetic model using inbred mouse strains that exhibit differences in susceptibility to pneumococcal infection BALB c and CBA Ca are resistant and susceptible to infection by S pneumoniae respectively We followed two traits in the progeny of a BALB c x CBA Ca F1 intercross survival time and the level

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file3.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    N and 1 Johnson DK 1 Graduate School of Genome Science and Technology University of Tennessee Knoxville TN 2 University of Tennessee College of Veterinary Medicine Knoxville TN 3 Department of Psychiatry University of Pennsylvania Philadelphia PA We have shown that a critical region of mouse chromosome 7 near the pink eyed p dilution locus coincides with QTLs for body weight and type 2 diabetes phenotypes Maternal inheritance of either of two radiation induced p deletion mutations p30Pub and p23DFiOD results in a significant increase in body fat and hyperinsulinemia Physical mapping and sequence analysis of this region predicts a single transcript Atp10c encoding an ATPase that is a putative aminophospholipid translocase The human ortholog ATP10C which maps to the homologous region on chromosome 15q12 has also been characterized amino acid sequences of the two genes are 85 and the overall genomic organization is conserved ATP10C maps to the Angelman syndrome AS critical region and may associate with a molecular subclass of AS patients with a BMI in the 80 100th percentile for age Atp10c is expressed in a variety of human and mouse tissues including white abdominal adipose tissue Atp10c is down regulated in vitro during differentiation from preadipocytes

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file4.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    Research Drew J Drinkwater N Schneider A Luetkehoelter K UW Madison We have used both classical genetics and sequence based genomics in search of mouse modifiers of liver tumorigenesis The dramatic 20 50 fold difference in tumor multiplicity between carcinogen treated male C57BL 6 B6 and C3H HeJ C3H mice has been shown to map mainly to distal chromosome 1 We have bred congenic animals carrying 70cM of chromosome 1 from C3H on an otherwise B6 genetic background Relative to B6 animals these B6 C31 mice developed up to 14 fold more liver tumors Analysis of recombinant animals carrying smaller portions of the C3H congenic region suggests the presence of two modifiers one of which has a 5 8 fold effect on tumor multiplicity and lies in a 7 Mb region on distal chromosome 1 Ras mutations are more prevalent in C3H tumors than in B6 By comparing ras mutations in tumors from the B6 C31and parental strains we have shown that the C3H alleles on distal chromosome 1 are not sufficient to recapitulate the high ras mutant frequency of C3H tumors despite their strong effect on tumor multiplicity Analysis of simple sequence repeats in 40 Mb of distal chromosome

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file5.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    1 Gregorova S 1 Divina P 2 Schalkwyk L 1 Institute of Molecular Genetics Academy of Sciences of the Czech Republic and Center for Integrated Genomics 2 Social Genetic and Developmental Psychiatry Research Centre Institute of Psychiatry Various genetically defined mouse models have been devised to study quantitative traits one of the most recent additions being the chromosome substitution strains CSS We have started construction of a panel of C57BL 6J ChrPWD CSSs by transferring individual chromosomes from PWD Ph a Mus m musculus derived inbred strain into the C57BL 6J recipient strain predominantly of Mus m domesticus origin The rationale of using two species of mice was to exploit the extremely high degree of DNA polymorphism between both genomes that have been separated for the last 1 million years Our preliminary estimate based on the comparison of 80 RPCI23 BAC ends with corresponding PWD Ph sequences indicates the frequency of 1SNP per 339 bp The progress in construction of the panel of 21 interspecies CSSs is following The strains with Chromosomes 5 7 8 13 15 and Y are at BC5 Chromosomes 1 9 17 18 and X are at BC6 Chromosomes 4 10 11 16 and 19 are

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file6.shtml (2016-02-17)
    Open archived version from archive

  • The 16th International Mouse Genome Conference (2002)
    L Clay T Ritson D Clay J Cox RD MRC Type II diabetes is a disease with a complex genetic and environmental aetiology Many mouse models of disease have been generated utilising knockout gene technologies many of which mimic the rare monogenic early onset forms of disease Mice inheriting a heterozygous KO in either the Insulin Receptor IR or Insulin Receptor Substrate 1 IRS 1 show very low disease incidence or no disease respectively However 40 of mice doubly heterozygous for the IR and IRS 1 KOs on a mixed genetic background exhibit a diabetic phenotype In order to generate new polygenic Type II Diabetes models we employed IR or IRS 1 heterozygous knockout mice in an ENU screen thus sensitising the screen for mutations in genes that can act in synergy with mild defects in insulin signalling insulin resistance to result in a diabetic phenotype F1 individuals generated were tested at 12 and 24 weeks of age using an IPGTT to identify individuals with impaired glucose tolerance IGT Affected F1 individuals enter inheritance testing and to date 3 lines IGT 3 IGT 4 and IGT 6 show clear inheritance of a sub diabetic phenotype All 3 lines exhibit IGT

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file7.shtml (2016-02-17)
    Open archived version from archive



  •