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  • 18th International Mouse Genome Conference (2004)
    2 Beier DR 1 1 Brigham and Women s Hospital Harvard Med Sch Boston United States 2 Children s Hospital Harvard Med Sch Boston United States We are screening embryonic mice for recessive ENU induced phenotypes similar to human congenital defects The spectrum of abnormalities found to date is remarkably varied and many are similar to human malformation syndromes including for example models of asphyxiating thoracic dystrophy Robin sequence cleft palate polycystic kidney disease and congenital heart defects One mutant phenotype includes pulmonary hypoplasia with lobar agenesis and a diaphragmatic muscularization defect which is similar to the abnormalities found in the often devastating but poorly understood human disorder congenital diaphragmatic hernia CDH Positional cloning revealed that this line carries a hypomorphic mutation of the transcriptional co factor Fog2 This result itself validates the utility of phenotype driven analysis as a requirement for Fog2 in diaphragm and lung development has not been previously recognized A role for this gene in CDH was suggested by the association of the disorder with chromosomal translocations at 8q22 3 where human FOG2 is located To test this sequencing was done on 30 autopsy samples and a heterozygous base change resulting in a premature stop codon

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file55.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    T 2 Gondo Y 1 Noda T 1 Wakana S 1 Shiroishi T 1 1 RIKEN GSC Tsukuba Japan 2 Nihon Univ Matsudo Japan Amelogenesis imperfecta AI is a common group of inherited defects of dental enamel formation which exhibit marked genetic and clinical heterogeneity The genetic basis of this heterogeneity is still poorly understood Enamelin is a extracellular matrix molecule that is one of components of enamel and is affected in human AI AIH2 We isolated three ENU induced dominant mouse mutations M100395 M100514 and M100521 which showed AI like phenotypes in their incisors and molars They were mapped closely to the genes encoding enamelin Enam and ameloblastin Ambn on chromosome 5 Sequence analyses revealed that all three mutations have base substitutions in the Enam M100395 and M100514 have S to I and E to G putative missense mutations located near the N terminal of enamelin protein M100521 has a mutation at splicing donor site of intoron 4 which results in a flame shift and gives rise to the stop codon We demonstrated that degradation of transcript of the mutant allele occurred in M100521 Thus it appeared that M100521 is a loss of function type mutation of the Enam

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file56.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    biology of the laboratory mouse All data associations are supported with evidence and citations From genotype to phenotype this resource integrates information about sequences maps gene function expression analyses alleles strains and mutant phenotypes Comparative mammalian data are also presented in the form of comparative maps and mammalian orthology relations MGI acquires data by direct data loads from other databases from labs that generate data and from published literature The indexing and nomenclature process ensures proper association of a publication with genes and mutant phenotypes described and ensure the use of standard nomenclature We co curate data with NCBI SWISSPROT and other resources to ensure proper Sequence to Gene Marker associations MGI makes use of several controlled vocabularies as tools for grouping and querying the various datasets comprising the database The GO annotation system is used to describe a gene product in terms of the function it performs the process that the function is part of and the cellular compartment or complex in which it is found The mammalian Phenotype Ontology is being developed and applied to describe phenotypes of mutant and genetically engineered mice The mouse anatomical dictionaries are used to consistently annotate expression data clone libraries and phenotypes

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file57.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    R 1 Denny P 1 Ragoussis J 2 1 Mammalian Genetics Unit Oxfordshire United Kingdom 2 Wellcome Trust Centre for Human Genetics Oxford United Kingdom The telomeric region of human 6p contains genes required for many aspects of embryonic development Monozygosity for this region is associated with a variety of congenital abnormalities that include orofacial clefting and other craniofacial defects CNS defects eye abnormalities ear abnormalities and deafness heart kidney and limb defects We have used functional genomics to generate mouse models that identify the 6p genes involved in the development of these structures To achieve this we have taken advantage of a large region of synteny between human 6p and the proximal portion of mouse chromosome 13 Mice monozygous for a region of chromosome 13 corresponding to 6p25 and 6p22 are viable and fertile and replicate features of the human 6p deletion syndromes In addition homozygous loss of function of the Foxq1 gene that resides within the deleted material produces mice with a glossy coat This has enabled a two generation region specific screen for recessive ENU induced mutations to be carried out Screening of 1729 pedigrees has identified 11 heritable mutations that are linked to Foxq1 All of

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file58.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    de Villena F 1 1 Department of Genetics University of North Carolina Chapel Hill Chapel Hill NC United States 2 Curriculum in Genetics and Molecular Biology University of North Carolina Chapel Hill Chapel Hill NC United States 3 Fels Institute for Cancer Research and Molecular Biology Temple University School of Medicine Philadelphia PA United States In mammals meiotic drive is achieved by preferential segregation of one chromosome over another to the functional product of female meiosis Two components are required in all meiotic drive systems a Responder and a Distorter The Distorter is the effector in the system and drives alleles at the Responder The goal of this project is molecular identification of the Distorter and the Responder in the Om Ovum mutant meiotic drive system The Responder maps to the Om locus Chr 11 while the Distorter is located 2 5 Mbp distal to Om We have defined a 315kb candidate interval for the Distorter locus and generated a haplotype map built by sequencing 50 fragments of 450bps We compiled the meiotic drive phenotypes for 18 wild derived and classical inbred strains representing three species of the Mus genus with each strain classified as driving or non driving Based

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file242.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    University of Nottingham Nottingham United Kingdom 2 MRC Human Genetics Unit Western General Hospital Edinburgh United Kingdom Facioscapulohumeral muscular dystrophy FSHD is a dominant human neuromuscular disorder caused by a deletion within the tandem repeat array D4Z4 on human chromosome 4q35 affected individuals carry 12 repeat units on one D4Z4 allele The mechanism whereby this mutation causes FSHD is still debated but current models favour epigenetic effects such as de repression of 4q35 genes and altered methylation D4Z4 contains an open reading frame ORF potentially encoding a homeodomain protein However by DNA hybridization techniques homologues have only been identified in higher primates supporting the hypothesis of a non coding function of D4Z4 Here we show that bioinformatics analysis of the draft mouse genome sequence enabled us to identify a potential mouse homologue mD4Z4 The sequence and organisation of mD4Z4 has been confirmed by a combination of PCR pulsed field gel electrophoresis and FISH The repeat unit size in mouse is 4 9kb compared to 3 3kb in human The repeat contains an ORF of 2025bp potentially encoding two homeodomains with 55 aa similarity to those encoded by human D4Z4 There is no significant sequence conservation outside the coding region The

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file59.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    1 Blake JA 1 Bult CJ 1 Wright MW 2 Wain H 2 Povey S 2 Eppig JT 1 1 The Jackson Laboratory Bar Harbor ME United States 2 University College London London United Kingdom Identifying all full length mRNA transcripts in both mouse and human through international collaborative efforts is generating an abundance of data The RIKEN mouse cDNA sets of 60 000 clones representing 21 000 unique mouse genes and the 42 000 annotated human cDNAs from the Odaiba H Invitational represent approximately 23 000 unique human genes These large cDNA sets provide an opportunity to assign nomenclature to those genes which do not have as yet meaningful symbols and names Both the RIKEN set and the Odaiba set are already annotated with data suggesting function or sequence similarity with other species The Mouse Genomic Nomenclature Committee MGNC and the HUGO Gene Nomenclature Committee HGNC with a long history of working together to provide standardized nomenclature for orthologous genes will utilize these mouse and human annotated cDNA sets to rapidly identify and name orthologous genes To date there are approximately 19 000 known genes in both species which have a meaningful and standardized nomenclature assigned to them These

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file60.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    more effectively identify sequences distant from genes that are important for the proper development and function of the organism Amid an ever changing sea of junk DNA sequences there are segments that are conserved through millions of years of evolution yet are distant from genes These sequences are likely to be enhancers repressors locus control regions matrix attachment regions insulators and some may have functions yet to be recognized We have identified one of these conserved gene distant sites through a viral insertional mutagenesis screen for leukemia in AKXD mice This site was termed Lymphoid Viral Insertion Site 1 Lvis1 Lvis1 is the most frequent site of insertion leading to leukemia in the AKXD lymphoid tumors Analysis of mRNA of flanking genes by Northern blot and quantitative real time PCR revealed two genes that are up regulated in Lvis1 tumors Hex an early expressed divergent homeobox gene and Eg5 a kinesin related motor protein These genes are 50 100kb upstream of Lvis1 and transcription from genes equivalent distances downstream is unaffected Sequence comparisons of Lvis1 reveal a striking evolutionary conservation with 92 5 sequence identity between Human and chicken over 226 basepairs DNaseI hypersensitivity assays and mobility shift assays reveal

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file61.shtml (2016-02-17)
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