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  • 18th International Mouse Genome Conference (2004)
    United States We previously outlined a phenotype driven mutagenesis project in the FVB inbred albino background Our concatameric transgenes contained tyrosinase and was flagged by repeats specific for Sleeping Beauty transposases Transmission of the transgene was followed with pigmented progeny By use of a transposase single copies of the tandem array of transgenes were excised and pasted else where in the genome Jumps were identified by the appearance of new color patterns indicating new expression patterns loci of tyrosinase New integrations after being separated from the original transgene were then brought to the homozygous level and screened for abnormal phenotypes Given the high frequency of jumps a single transgene can theoretically be inserted excised then inserted again in the germ line Given this possibility associated phenotypes need to be linked to either the genetic disruption caused by insertion of the transgene at the new locus or from the molecular signature left from the previous integration site In the case where the two sites are closely linked we have developed a method to distinguish which loci is responsible for the phenotype Additionally we have begun using a linearized version of the transgene which improves upon the original design of the project

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file191.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    large scale genome wide mutagenesis of the mouse has been set up Ethyl nitrosourea enu was used to treat founder C57BL 6 B6 male mice followed by a 3 generation breeding scheme to generate G3 mice that were screened for recessive phenotypes Two screening programs have been set up As a service to the research community the G3 mice are provided as a service to investigators who has received funding

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file192.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    progressive ataxia growth retardation and muscle wasting following weaning with eventual death at 5 6 weeks More recently teetering mice were shown to display bilaterally synchronous spike wave discharges on cortical electroencephalogram recordings J Noebels pers comm linking teetering with a group of mouse models with absence epilepsy The teetering gene was originally mapped to the distal end of mouse chromosome 11 Lane 1967 We typed offspring from a B6C3Fe

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file193.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    communication abnormalities There is a wide range of severity observed in autistic patients as well as the milder non clinical manifestation of the Broader Autism Phenotype BAP in family members Just as humans can span the range of autistic to BAP to reserved to outgoing various inbred lines of mice exhibit a range of different behaviors We are correlating molecular profiling with social behaviors and cognitive flexibility of a variety of inbred strains in order to begin to dissect the complex trait of autism Data on social behavior are being collected using a three chambered apparatus containing an unfamiliar mouse in a wire cage on one side an empty wire cage on the other and a clear middle chamber Several measurements are taken over the ten minute task including time spent in each chamber number of entries into each chamber and sniffing directed at the wire cages A second ten minute task involved placing another unfamiliar mouse in the previously empty wire cage to assess preference for the novel mouse over the now familiar mouse Cognitive flexibility is being measured through training and reversal on a t maze Animals are trained to find a food reward in one arm of

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file194.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Environmental Health Sciences Research Triangle Park NC United States 2 Department of Molecular Genetics and Microbiology Duke University Medical Center Durham NC United States 3 Department of Pathology Neurosurgical Service and Cancer Center Massachussets General Hospital and Harvard University Boston MA United States Cerebral cavernous malformations CCM consist of clusters of abnormally dilated blood vessels within the central nervous system Hemorrhaging of these lesions can result in headaches seizures and lethal stroke Three loci are associated with autosomal dominant CCM and the causative genes have been identified for CCM1 and CCM2 The allelic series for both genes suggests that disease results from loss of protein function and it has been proposed that growth of cavernous malformations depends on somatic mutation of the wild type allele in heterozygotes To test this hypothesis we bred mice that were heterozygous for a targeted mutation of Ccm1 and homozygous for loss of the tumor suppressor Trp53 p53 which has been reported to increase the rate of somatic mutation due to mitotic recombination interstitial deletion and whole chromosome loss and reduplication We observed vascular lesions in the brains of 5 9 of the Ccm1 Trp53 animals but none in littermates of other genotypes Histologic and

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file195.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    three months of age and this phenotype is dominant with 50 penetrance In order to understand the inheritance and to map the disease the mice were crossed with FVB NJ and CAST EiJ strains Although on the inbred C57BL 6J strain the phenotype is homozygous lethal either in the embryonic or perinatal period in the mapping crosses homozygotes survive for about three weeks with ataxic symptoms starting at over two

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file196.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    familial adenomatous polyposis FAP Min mice carry a germline heterozygous mutation in the Apc gene that predisposes to the development of numerous adenomas throughout the intestinal tract Notably the Min phenotype is mouse strain dependent For example the C57BL 6 strain is highly sensitive to Min induced intestinal tumorigenesis while several strains including AKR are highly resistant to tumor development Linkage analysis of backcross progeny arising from crosses between tumor resistant and sensitive strains has mapped a major resistance modifier of the Min phenotype to distal chromosome four This tumor resistance locus called Mom1 M odifier o f M in 1 has been shown to consist of a complex of two or more closely linked candidate genes Our laboratory has a major research focus in the identification and functional characterization of the Mom1 genes We continue work conducted over a number of years by groups in Madison WI and Cambridge MA These collaborative studies indicate that the proximal Mom1 gene is likely to be Pla2g2a which encodes for a phospholipase that is active at the plasma membrane Pla2g2a provides resistance to Min tumorigenesis throughout the intestine but especially in the colon In contrast the distal Mom1 component exerts a resistance

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file198.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    1 Masuya HM 1 Suzuki TS 1 Wakana SW 1 Gondo YG 1 Minowa OM 1 Shiroishi TS 1 Noda TN 1 1 RIKEN GSC Yokohama Japan 2 Univ Tokyo Tokyo Japan 3 Meijo Univ Nagoya Japan 4 Kobe Univ Kobe Japan In RIKEN mutagenesis project to generate mouse models for common human diseases we screened for various phenotypes in the mutated animals We report here a series of new mouse models for human diabetes We screened 9 375 animals for dominant traits using a clinical biochemical test and thereby identified 11 mutations in the glucokinase Gk gene that were associated with hyperglycemia GK is a key regulator of insulin secretion in the pancreatic beta cell Heterozygous mutations in human GK cause maturity onset diabetes of the young type 2 MODY2 heterozygously and homozygous mutations result in cause permanent neonatal diabetes mellitus PNDM The mutations in our 11 mutant lines were scattered in the mouse G k k gene and included six missense mutations two nonsense mutations and three mutations in splicing signals Four lines bears identical mutations to those found in human MODY2 patients and another bears the its mutation at the same location that is mutated in a

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file199.shtml (2016-02-17)
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