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  • 18th International Mouse Genome Conference (2004)
    MUTAGENESIS PROJECT Minowa O Inoue M Sakuraba Y Motegi H Toki H Tada M Kaneda H Ishijima J Masuya H Kobayashi K Suzuki T Wakana S Gondo Y Shiroishi T Noda T RIKEN GSC Yokohama Japan Development of syndromic and nonsyndromic deafness mouse models would greatly facilitate understanding the mechanisms of hearing impairment the models would be useful tools to advance current methods of diagnosis and treatment of hearing impairment In order to develop a novel human hereditary deafness mouse model we used a ENU mutagenesis screening platform established to identify various kinds of mouse models for human diseases We extensively evaluated various visible clinical biochemical hematological and cardiovascular phenotypes as well as behavioral anomalies and tumorigenesis Specifically we performed primary screening for hearing impairment by observing the startle responses evoked by click box stimulation during the modified SHIRPA procedure Of the 5 000 G1 mice screened 14 G1 mutant candidates were subjected to the auditory brainstem response ABR measurements to analyze the early phases of auditory function impairment Of these 14 mutant candidates 11 G1 mice showed ABR abnormalities and they had been clearly inherited by G2 generations The heritable hearing phenotype had not been accompanied by any behavioral

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file115.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    GENE EXPRESSION AT THE DEL 13 SVEA36H REGION OF MOUSE CHROMOSOME 13 DURING POSTIMPLANTATION MOUSE DEVELOPMENT Willoughby C 1 Davies J 1 Underhill P 1 Holmes C 1 Greenfield A 1 Denny P 1 Ragoussis J 2 Arkell R 1 1 Mammalian Genetics Unit MRC Harwell Oxfordshire United Kingdom 2 Wellcome Trust Centre for Human Genetics Oxford United Kingdom Radiation induced chromosomal deletions in mouse have been used in the functional analysis of defined regions in a number of studies Within the Mammalian Genetics Unit at MRC Harwell attention has focused on the annotation of the Del 13 Svea36H deletion on chromosome 13 This annotation has involved the sequencing and comparative sequence analysis of the region in parallel with a screen for recessive ENU induced mutations at the region The screen has identified 11 embryonic lethal mutations and as part of the ongoing analysis we aim to clone the mutated genes In this type of cloning experiment a key stage is the identification of the expression pattern of genes within the critical region We have decided to utilise microarray technology to assist in this positional candidate approach to identification of these mutations We have used whole genome spotted oligo arrays

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file116.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    DR 1 1 Brigham and Women s Hospital Harvard Medical School Boston MA United States 2 Dana Farber Cancer Institute Harvard School of Public Health Boston MA United States 3 Baylor College of Medicine Houston TX United States 4 Genomics Institute of the Novartis Research Foundation San Diego CA United States ENU mutagenesis has proven to be an efficient means for generating novel developmental mutations in the mouse However the task of localizing and characterizing these mutations remains a significant barrier to their general utilization We have established a consortium for the genetic mapping phenotypic characterization and positional cloning of ENU induced mutations affecting developmental processes In order to expeditiously map mutations at moderate resolution we have assembled a genome wide panel of over 400 single nucleotide polymorphisms SNPs Thus far confirmed linkage of 5 recessive mutants has been obtained by genotyping 10 11 affected mice Genetic intervals of 21 38 Mb identified with the SNP panel were subsequently reduced to 2 13 Mb by genotyping additional affecteds with microsatellite markers The SNP panel offers several advantages over conventional microsatellite marker panels higher marker density which enables the detection of whole genome linkage information and the ability to map mutations

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file117.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    1 is an integrated research programme involving 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 The SOPdb resource is an XML database 2 of Standard Operating Procedures SOPs that constitutes the European Comprehensive First Line Phenotyping Protocol for mice ECFLP 3 with a web interface The ECFLP is a precise evolving working manual of SOPs for primary pathophysiological analysis of mouse mutants which will be used in all reference laboratories contributing to the EUMORPHIA project SOPdb allows storage indexing searching retrieval and transformation of SOPs taking advantage of the XML technology A major challenge in modern biology is to link genome sequence information to gene function In many organisms this is being done by characterising phenotypes that result from individual mutations Efficiently expressing phenotypic information requires combinatorial use of ontologies 4 SOPs are vital for describing the phenotype they attempt to measure the units and the manner of measurement as well as possible interpretations of observations 4 SOPdb will provide links to Assay ontologies to facilitate phenotypic descriptions generated according to our recently proposed schemal 4 References 1 EUMORPHIA Understanding Human Disease Through

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file119.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    ANB Tsukuba Institute Aloka Co Ltd Ibaraki Japan 3 Jikei Univ Sch of Med Dept Anat Tokyo Japan A KK A y mouse is the experimental animal model for type II diabetes Interestingly it was found that the Langerhans Island of KK A y becomes hypertropic with age Therefore the purpose of this experiment is to search the genes which are involved in the hypertropic Island and to examine the histological localization of these genes The two way subtraction libraries were made between the pancreas of BALB cA 10 week old and one of KK A y 10 week old After cloning of these libraries we picked up at lease 1200 clones from each library and arrayed them on the membrane filters These filters were then hybridized with the probes prepared from cDNA of each pancreas The characteristic clones were selected and sequenced Then homology and cluster analysis were performed Next PCR analysis was done to select the clones which are different in amount between diabetes and control Finally the probes for in situ hybridization were made from the selected clones We selected 162 clones from KK BALB library K B and 153 from BALB KK library B K as

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file120.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Del36H mutation is associated with a deletion of about 12 7 Mb of mouse chromosome 13 Mice that are heterozygous for Del36H are viable and fertile and have been used to identify ENU induced recessive lethal mutations In order to facilitate positional cloning of these recessive mutations sequence data from BAC clones has been used to generate a set of microsatellite markers across the Del36H region These markers were then tested for polymorphism between each strain used in the screen To complement the lethal recessive screen a gene driven screen is underway to discover additional mutations of genes in the region DNA from the F1 progeny of mutagenised individuals from the MRC Harwell ENU mutagenesis programme has been screened using dHPLC The first gene to undergo screening Foxf2 is a forkhead family transcription factor gene A Trp to Arg mutation has been discovered in the DNA binding domain of Foxf2 which occurs within a potential sheet structure The tryptophan at this position is conserved in all members of the forkhead family and so may represent a critical residue Mice with this mutation have been rederived by in vitro fertilisation using cryopreserved spermatozoa from the ENU archive and outcrossed onto C3H

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file121.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    MUTANT LINE THAT SHOWS LEARNING DEFICIT REDUCTION OF BODY SIZE CONVULSIVE SEIZURE AND TRANSIENT IMMOBILITY Furuse T Wada Y Masuya H Kaneda H Kobayashi K Kawai A Kushida T Nishii R Gondo Y Noda T Wakana S Shiroishi T RIKEN GSC Tsukuba Japan We are carrying out a large scale screening for behavioral mutant mice induced by ENU A mutant line designated as M100200 was identified in the screening and showed learning deficit in the passive avoidance test In further analysis three characteristic phenotypes reduction of body size convulsive seizure and immobility were observed in the backcross progeny In depth characterization indicated reduction of body weight short body length and small body mass index specifically in the male mice The convulsive seizure and immobility start suddenly with vocalization ataxic gait lowered posture and slow movement The symptom starts 30 60 minutes after mice were transferred to new home cage When the mutants are immobilized they continuously open their eyes sometimes move their vibrissae and show prayer reflex They move a few steps in response to human contact Thus affected mutant mice keep conscious during immobility A single dominant mutation may cause the multiple symptoms in M100200 line because the several

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file122.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    LH 1 Johnson KR 1 Heinzmann U 3 Stumm G 4 Paffenholz R 4 1 The Jackson Laboratory Bar Harbor United States 2 Cornell University Ithaca United States 3 GSF National Research Center for Environmental Health Neuherberg Germany 4 Ingenium Pharmaceuticals Martinsried Germany The mammalian inner ear consists of the cochlea required for auditory sensation and the vestibular system required for balance sensation The vestibular system is comprised of the three semicircular canals that detect angular acceleration plus the saccule and utricle and their associated maculae that detect linear acceleration The head tilt het and head slant hslt loci of mice are required for the normal development and function of the vestibular system Head tilt and head slant mutant mice display a complete absence of saccular and utricular otoconia calcium containing crystals that act as inertial masses affixed to the maculae Mutant mice that lack these otoconia display several behaviors consistent with vestibular impairment including circling an abnormal tilting posture impaired righting reflexes and inability to swim Recombination and deletion based positional cloning strategies have identified Nox3 and Noxo1 as the causative genes underlying the het and hslt phenotypes respectively Sequence analysis shows that Nox3 is paralogous to gp91phox Nox2

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file123.shtml (2016-02-17)
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