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  • The 16th International Mouse Genome Conference (2002)
    in collagen type 1 genes COL1A1 and COL1A2 So far in the mouse two mutations leading to OI syndrome have been identified Mov13 a dominant allele of Col1a1 chr 11 and oim a recessive allele of Col1a2 chr 6 The mouse recessive mutation fragilitas ossium fro is a new model for severe forms of OI unlinked to collagen defects Fragilitas ossium fro fro previously known as forelimb deformity fld fld is an autosomal recessive mutation that was discovered in 1975 in a randombred stock of mice after treatment of spermatocytes with the chemical mutagen tris 1 aziridinyl phosphine sulphide ThioTEPA This mutation which is often lethal is controlled by one fully penetrant recessive allele Live homozygous mutant mice fro fro display most of the features specific to OI curved and brittled bones small size and abnormal dentinogenesis but have normal lifespan and fertility The bowing of bones becomes less obvious with ageing Genetic mapping of the fro locus was achieved by genotyping three different intercrosses involving the FRA Pas inbred strain segregating for fro and MBT Pas MAI Pas and SEG Pas srains derived respectively from Mus musculus musculus or Mus spretus species Such interspecific crosses allow the segregation of

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file139.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    CATHEPSIN L DEFICIENT MUTATION F Benavides The University of Texas M D Anderson Cancer Center 1 Starost M 1 Flores M 1 Gimenez Conti I 2 Guénet JL 1 Conti C 1 UT MD Anderson Cancer Center 2 Institut Pasteur We previously described an autosomal recessive mutation named nackt nkt exhibiting partial alopecia associated with CD4 T cell deficiency Also we recently reported that nkt now Ctslnkt comprises a deletion in the cathepsin L Ctsl gene Another recent study reported that Ctsl knock out mice have CD4 T cell deficiency and periodic shedding of hair which recapitulate the nkt mutation and the old furless fs mutation The current study focuses on the dermatological aspects of the nkt mutation Careful histological analysis of skin development of homozygous nkt mice revealed a delayed hair follicle morphogenesis and late onset of the first catagen stage The skin of Ctslnkt Ctslnkt mice showed mild epidermal hyperplasia and hyperkeratosis severe hyperplasia of the sebaceous glands and structural alterations of hair follicles Epidermal differentiation seems to be affected in nkt skin with overexpression of involucrin and profilaggrin filaggrin along with focal areas of keratin 6 expression in the interfollicular epidermis Severe epidermal hyperplasia acanthosis orthokeratosis and

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file140.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    NOVEL RECESSIVE MUTATION AFFECTING THE EYELID AND CORNEAL EPITHELIUM X Du The Scripps Research Institute Whitten C Mann N Beutler B The Scripps Research Institute Through germline saturation mutagenesis with N ethyl N nitrosourea ENU in C57BL 6J mice we have produced a novel mutation affecting development of the eye This recessive mutation named bat is characterized by eyelid fusion ankyloblepharon and a complete lack of corneal conjunctival and eyelid epithelium The phenotype closely mimics non syndromic cryptophthalmos with ankyloblepharon a rare inherited human disease In bat homozygotes the dermis of the eyelid is fused to the corneal stroma and in most cases the palpebral fissure is absent On the C57BL 6J background the mutant phenotype is occasionally accompanied with microphthalmia The mice are otherwise phenotypically normal suggesting that the gene in question has a highly specific function to generate and or to maintain the corneal epithelium It has been known that the corneal epithelium arises in embryo from a monolayer of ectoderm that lies over the corneal stroma and is constantly replenished by a population of stem cells that reside at the cornea limbus Hence bat provides an excellent model system to study the genetic program that creates a

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file141.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    1 Brigham and Women s Hospital Harvard Medical School 2 Genomics Institute 3 Baylor College of Medicine 4 Wichita State University 5 Brigham and Women s Hospital Harvard Medical School ENU mutagenesis has proven to be a powerful means by which to generate single nucleotide mutations in mice We are screening E18 5 embryos from ENU treated mice for recessive phenotypes that resemble human congenital disorders The screen is performed as an outcross to facilitate the rapid localization of the mutant loci using a strategy of interval haplotype analysis Among the large spectrum of phenotypic abnormalities we have identified are a significant number of defects involving craniofacial development including nonsyndromic and syndromic cleft primary and secondary palate Orofacial clefting is a major human congenital disorder with a complex etiology and a high incidence 1 500 to 1 2500 live births depending on a variety of factors Many known mouse mutants contain orofacial clefts as part of their phenotype but the best models for human clefting are those with clefts in the absence of additional phenotypes In an analysis of 54 families for recessive mutations we identified four models of orofacial clefting including cleft palate only 1 cpo1 cleft secondary palate

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file142.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Lu B 1 Nussbaum R 1 NHGRI NIH 2 U of Frankfurt 3 MINDS NIH 4 NINDS NIH Mutations in synuclein SNCA are known to cause Parkinson s disease in a subset of familial cases The normal function of this protein is unknown but it is a major component of Lewy bodies the neuronal inclusions diagnostic for Parkinson s disease We have previously shown that mice lacking Snca are depleted for a subset of synaptic vesicles in hippocampal neurons and hippocampal slices from these animals show an attenuated response to a prolonged course of low frequency stimuli The mechanism by which lack of Snca causes these phenotypes is unknown Microarray experiments were performed to see if differences in gene expression might help in understanding Snca s function No dramatic differences have been found but there are numerous subtle changes including a down regulation of a subset of mitochondrial and ribosomal genes in the knockout mice Two human SNCA transgenes were crossed onto the knockout background The wild type gene is carried on a PAC with its endogenous promoter A human cDNA carrying the A53T mutation is under the control of the prion promoter Inclusions containing SNCA were found in the

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file143.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Crew University of Bath Bennett W R Ward A University of Bath Insulin like growth factor 2 IGF2 is implicated in overgrowth diseases and tumour formation in humans and transgenic animals We have investigated whether along with the effects of IGF2 inactivation of one or more tumour suppressor genes are involved in the transition from overgrowth to cancer Transgenic mice overexpressing IGF2 under the control of a keratin gene promoter show overgrowth of the skin and colon but do not develop tumours In mice with both this transgene and inactivation of the tumour suppressor gene p53 the skin becomes markedly more hyperplastic Excess IGF2 also appears to change the spectrum of tumours seen in the p53 knockout mice from mainly thymic lymphomas to include skin papillomas The IGF2 gene is located on human chromosome 11p15 chromosome 7 in mouse in close proximity to the cyclin dependent kinase cdk inhibitor p57KIP2 Mutation mis regulation of both of these genes occur in the overgrowth disorder Beckwith Wiedemann Syndrome BWS One proposed route for the molecular pathogenesis of BWS is overexpression of a paternally expressed gene for example IGF2 and or the deficiency of a maternally expressed gene for example p57KIP2 We have

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file144.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    1 Neuhäuser Klaus A 1 Pretsch W 1 Sandulache R 1 GSF 2 Scripps Research Institute Cell cell communication in the avascular lens is essential for the exchange of ions metabolites and small cell signaling molecules among the epithelial and lens fiber cells Disruption of the normal physiological state could lead to cataract Gap junctional channels play an important role in lens intercellular communication Three gap junction proteins Gja1 Gja3 Gja8 are expressed in the lens and are the subunits of gap junction formation It follows that mutations in the corresponding genes are likely associated with eye abnormalities In the analysis of our collection of dominant eye mutations in the mouse 3 have been mapped to chromosome 14 in the vicinity of Gja3 Heterozygotes of all three mutations result in cataract nuclear sub cortical or total To date two have been molecularly confirmed as mutant alleles of Gja3 Together with our results for Gja8 the present results indicate the physiological importance of these two genes for lens development function In contrast we have not yet identified a mutation of the Gja1 gene A number of explanations are possible including chance a low inherent locus mutability or haplo sufficiency Gap junction

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file145.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    MODEL T Fernandez National Cancer Institute 2 Tony Parks 1 Wolfraim L 1 Potter M 1 Letterio J 1 National Cancer Research Institute 2 University of Washington Seattle Murine plasmacytomas are tumors of immunoglobulin secreting plasma cells that can be induced in genetically susceptible BALB c mice by the intraperitoneal injection of poorly metabolisable alkanes TGF b being a potent negative regulator of the proliferation and differentiation of B lymphocytes we examined its role in plasmacytomagenesis We earlier demonstrated that PCTs lack functional TGF b receptors TbR and are resistant to the growth inhibitory effects of TGF b this having demonstrated for the first time that interruption of a tumor suppressor pathway contributes to plasmacytomagenesis Subsequently we went on to prove the presence of both active TGF b as well as a fully functional TbR within the cell We then provided proof of principle that an impediment in receptor trafficking to the cell surface occurs due to intracellular sequestration of the receptor by the active TGF b ligand Focus on the biosynthesis and trafficking of TbRII indicated that TbRII within the plasmacytoma does not traffick normally through the endoplasmic reticulum and the Golgi This again is the first known demonstration

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file146.shtml (2016-02-17)
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