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  • 18th International Mouse Genome Conference (2004)
    Brielmeier M 2 Lengeling A 3 Müller W 4 Reitmeir P 9 Schmidt J 2 Adamski J 1 Beckers J 1 Behrendt H 7 Busch DH 6 Favor J 5 Graw J 5 Heldmaier G 4 Heyder J 2 Höfler H 3 Klingenspor M 4 Klopstock T 1 Meitinger T 5 Ollert M 7 Quintanilla Martinez L 3 Wolf E 8 Wurst W 5 Zimmer A 1 Hrabe de Angelis M 1 1 GSF Research Center Institute of Experimental Genetics Munich Germany 2 GSF Research Center Institute of Inhalation Biology Munich Germany 3 GSF Research Center Institute of Pathology Munich Germany 4 Phillips Univsersity Department of Biology Marburg Germany 5 GSF Research Center Institute of Developmental Genetics Munich Germany 6 TUM Institute of Medical Microbiology Immunology and Hygieny Munich Germany 7 TUM Division of Environmental Dermatology and Allergy Munich Germany 8 LMU Lehrstuhl für Molekulare Tierzucht und Biotechnologie Munich Germany 9 GSF Research Center IGM Munich Germany During the last years large scale projects like ENU mutagenesis gene trap or knock out generation brought about many new mouse mutants In many cases those lines were generated by a highly specialized lab and had not been comprehensively phenotyped under standardized conditions Since mutations might have pleiotropic effects causing phenotypes in different organ systems and pathways it is very likely that additional phenotypes were not uncovered and the enormous scientific value of those new mutants remained unexploited To overcome this phenotyping gap the German Mouse Clinic GMC www mouseclinic de was established The GMC offers a phenotyping platform for comprehensive and standardized phenotyping of mouse mutants in the fields of behaviour dysmorphology bone and cartilage neurology eye function and development clinical chemistry immunology allergy steroid metabolism nociception expression profiling lung function cardiovascular diseases energy metabolism and pathology Additional screens for host pathogen

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file200.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    2 Pfeffer K 2 Klopstock T 1 Gekeler F 1 Ohl F 9 Balling R 8 Wolf E 3 Hrabe de Angelis M 1 1 GSF Research Center Institute of Experimental Genetics Munich Germany 2 Institute of Medical Microbiology Immunology and Hygiene Technical University of Munich Munich Germany 3 Institute of Molecular Animal Breeding Gene Center University of Munich Munich Germany 4 Max Delbrueck Centre Molekulare Genetik und Mikrosatellitenzentrum Berlin Germany 5 Division Environmental Dermatology and Allergology GSF TUM Munich Germany 6 Institute of Immunology GSF Research Center for Environment and Health Munich Germany 7 Division Molecular Neurobiology Polyclinic for Psychiatry University of Bonn Bonn Germany 8 German Resaerch Center for Biotechnology Braunschweig Germany 9 Max Planck Institute of Psychiatry Munich Germany 10 Department of Neurology Clinic Großhadern University of Munich Munich Germany 11 Institute of Internal Medicine I Medical Microbiology University Clinic Freiburg Freiburg Germany Mouse models have proven to play an important role in gene function studies for inherited diseases in humans We give an update of one of the largest ENU mutagenesis programs in Europe the Munich ENU Mouse Mutagenesis Project After having focused on dominant traits in the first years we put our main efforts during the last years on recessive phenotypes In addition we continue to produce F1 animals to further isolate novel dominant alleles of known and new genes Currently more than 34 000 mice have been investigated for dysmorphology and blood based parameters To date more than 550 mutant lines have been isolated Novel dominant or recessive phenotypes have been identified with specific abnormalities comprising congenital malformations biochemical alterations immunological defects and complex traits such as behaviour or predispositions to allergies Mutants of clinical relevance for inherited diseases in human have been further analysed by backcross mapping and genome wide microsatellite typing Many

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file201.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    OF THE WILMS TUMOUR SUPPRESSOR PROTEIN WT1 Allsop JE 1 Moorwood K 1 Charalambous M 1 Lahiri D 1 Dutton JR 1 Roberts GE 2 Ward A 1 1 University of Bath Bath United Kingdom 2 University of Manchester Manchester United Kingdom The Wilms tumour suppressor protein Wt1 is a transcriptional regulator that plays a key role in the development of several organ systems Wt1 homozygous knock out mice showed agenesis of the kidneys gonad and spleen and also abnormal development of the heart diaphragm and retinal ganglia The transcriptional activation domain of Wt1 is subject to regulation by an N terminal suppression domain This transcriptional suppression domain has been proposed to function by recruiting a cosuppressor protein to Wt1 that can block the function of the transcriptional activation domain Transfection assays have identified Brain acid soluble protein Basp1 as a component of the Wt1 cosuppressor that can regulate Wt1 transcriptional activity Basp1 is a nuclear factor that associates with Wt1 in cells that naturally express both proteins Analysis of embryonic and adult kidney sections reveals that Basp1 is present in the developing nephron structures of the embryonic kidney and that coincident with Wt1 its expression is restricted to the

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file202.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    HEDGEHOG IN THE CEREBELLAR DEFICITS OF THE TS65DN MOUSE MODEL OF DOWN SYNDROME Saran NG Klinedinst DK Roper RJ Baxter LL Beachy PA Reeves RH Johns Hopkins University School of Medicine Baltimore United States Down syndrome DS the most common viable autosomal aneuploidy in humans is caused by trisomy 21 The Ts65Dn mouse is a model with segmental trisomy for approximately 16 Mb at the distal end of mouse chromosome 16 in a region that shows near perfect conserved synteny with human chromosome 21 and includes orthologs of about half the chromosome 21 genes Like humans with DS the Ts65Dn mouse has a significantly reduced cerebellum and reduced density of Purkinje and granule cells that comprise the internal granule layer of the cerebellum We present a postnatal profile of the maldevelopment in the granule cells that identifies the developmental stage at which the trisomy related morphological differences first appear We also show that the granule cell precursors gcp are the affected cell population Further we investigate the effects of sonic hedgehog Shh a potent mitogen that activates transcription of several genes in gcp We show reduced activation of genes whose transcription is regulated by Shh and a reduced yet dose

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file203.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    United States 2 Department of Otolaryngology University of Washington Seattle United States Deafwaddler dfw mice are deaf and exhibit wobbly gait The dfw mutation was localized to Atp2b2 encoding a plasma membrane Ca 2 ATPase PMCA2 Heterozygous mutants of Atp2b2 while not deaf have significant high frequency hearing loss implying that tight regulation of its expression is required PMCA2 is highly expressed in stereocilia of cochlear outer hair cells cerebellar Purkinje cells and epithelial cells of lactating mammary gland suggesting that it is important for hair cell Ca 2 homeostasis To understand the pathways that control PMCA2 expression we have examined transcriptional regulation of the Atp2b2 gene Using antisense primers in the open reading frame 5 RACE was performed on RNA from multiple tissues in CBA mice Sequencing of clones identified three primary alternative exons of transcriptional initiation implying regulation through distinct promoters Two of these 1c and 1f were observed in cochlea and cerebellum A third 1m was restricted to lactating mammary gland Quantitative real time RT PCR qPCR confirmed the findings from 5 RACE To determine the promoter used in hair cells cochleae were microdissected by separating organ of corti OC from modiolus MOD qPCR was performed on

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file204.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Eumorphia Consortium E L MRC Mammalian Genetics Unit Harwell United Kingdom EUMORPHIA is an EU supported integrated research programme incorporating the expertise and resources of many European mouse genetics centres The focus is on the development of new approaches in phenotyping mutagenesis and informatics leading to improved characterisation of mouse models for the understanding of human physiology and disease One of the key aims is to improve the reproducibility and comparability of phenotype tests across different laboratories and to provide access to new and improved phenotyping platforms A major achievement has been the establishment of a new robust primary screening strategy the European Comprehensive First Line Phenotyping protocol ECFLP for many of the body systems in the mouse Validation and refinement of the tests selected for the ECFLP is underway using specific inbred and known mutant lines Crucial to the development of the ECFLP as a resource has been its integration with a standard operating procedure SOP XML database as well as appropriate ontologies for improved data analysis data dissemination and continuous SOP refinement This resource will be publicly available through the EUMORPHIA website www eumorphia org from summer 2004 Two levels of first line phenotyping have been defined primary

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file205.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    The Jackson Laboratory Bar Harbor ME United States Major mutagenesis programs are underway at several institutions providing mice for screening for diverse phenotypes to develop new models for human disease and to help dissect biological pathways At The Jackson Laboratory ENU mutagenized C57BL 6J mice are being screened by three major project groups Neuromuscular Function NMF Heart Lung Blood and Sleep Disorders HLBS and Reproductive Genomics ReproGenomics as well as many smaller project interests eg eye defects hearing defects obesity and others Rapid localization of these new mutations on the mouse genetic map is essential to define remutations at previously known loci or identify newly affected genes We have developed a high throughput genome scanning system that regularly allows defining chromosomal localization within two days of the availability of animals segregating the phenotype From as few as 6 affected and a few unaffected N2 or F2 animals or less optimally G3 or G4 sibships genome scanning by haplotype analysis Neuhaus and Beier 1998 Mammalian Genome 9 150 154 rapidly identifies the candidate region If more than ten affected and a similar number of unaffected N2 F2 or G3 are available for the mapping genome scans by pooling Taylor et al

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file206.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Center for Environment and Health Institute of Experimental Genetics Munich Germany 2 CNR Istituto di Biologia Cellulare Monterotondo Italy 3 CNRS Centre de Distribution de Typage et d Archivage animale Orleans France 4 MRC Mammalian Genetic Unit Harwell United Kingdom 5 Karolinska Institutet Unit for Embryology and Genetics Stockholm Sweden 6 FCG Instituto Gulbenkian de Ciencia Oeiras Portugal 7 EMBL EBI European Bioinformatics Institute Hinxton United Kingdom The EMMA European Mouse Mutant Archive was established as part of a worldwide network of repositories for retaining all generated mutant strains essential for biomedical and medical research Among cryopreservation of mouse mutant lines in form of embryos or sperm the distribution of these lines to qualified investigators is the main focus EMMA maintained lines are supplied as a service to the research community at large and solely for research purposes EMMA strains are available to academic institutions from all around the world Applications for depositing and requesting mutant strains can be submitted through the EMMA website www emmanet org In order to make the transfer of biological information more effective appropriate databases will be further developed in the framework of the EMMA and in collaboration with existing databases An essential role of

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file207.shtml (2016-02-17)
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