International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


Models of Human Diseases

POSTERS 141 - 191

141. HIGH RESOLUTION MAPPING OF THE TEETERING MOUSE EPILEPSY GENE AND INVESTIGATION OF CANDIDATE GENES
Moffatt S, White AH, Gardiner RM, Rees M
Department of Paediatrics & Child Health, Royal Free & University College Medical School, University College London, London, United Kingdom

142. MODELING AUTISM IN THE MOUSE
Nadler JJ, Moy SS, Zou F, Wright FA, Crawley JN, Threadgill DW, Magnuson TR
1 University of North Carolina, Chapel Hill, United States, 2 National Institute of Mental Health, Bethesda, United States

143. LOSS OF P53 SENSITIZES MICE WITH A MUTATION IN CCM1 (KRIT1) TO DEVELOPMENT OF VASCULAR MALFORMATIONS
Plummer NW 1, Gallione CJ 2, Srinivasan S 2, Louis DN 3, Marchuk DA 2
1 National Institute of 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

144. FITFUL – A NEW MOUSE MODEL OF IDIOPATHIC EPILEPSY AND ATAXIA
Roberts MC, Letts VA, Beyer B, Frankel WN
The Jackson Laboratory, Bar Harbor, United States

145. CHOLINE KINASE BETA AND A MURINE MODEL OF MUSCULAR DYSTROPHY
Sher RB, Cox GA
The Jackson Laboratory, Bar Harbor, United States

146. GENETIC PATHWAY ANALYSIS OF MOM1 CANDIDATE GENES
Cormier R, McAlpine C, Bogan C, Bluemn E
University of Minnesota School of Medicine, Duluth, MN, United States

147. A SERIES OF MATURITY ONSET DIABETES OF THE YOUNG, TYPE 2 (MODY2) MOUSE MODELS GENERATED BY A LARGE SCALE MUTAGENESIS PROJECT IN RIKEN GSC
Inoue MI 1, Sakuraba YS 1, Motegi HM 1, Kubota NK 2, Terauchi YT 2, Toki HT 1, Matsui JM 1, Toyoda YT 3, Miwa IM 3, Shigeyama YS 4, Kaneda HK 1, Ishijima JI 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

148. COMPREHENSIVE, STANDARDIZED PHENOTYPING OF MOUSE MUTANTS  IN THE GERMAN MOUSE CLINIC (GMC)
Fuchs H 1, Gailus-Durner V 1, Lengger CH 1, Reinhard C 2, Schluz H 2, Calcada-Wack J 3, Elvert R 4, Dalke C 5, Franz TJ 6, Grundner-Culemann E 1, Hoelter SM 5, Javaheri A 7, Kalaydjiev S 6, Klempt M 8, Kunder S 3, Mijalski T 1, Horsch M 1, Pedersen V 5, Prehn C 1, Radc I 1 Schneider I 1, Ehrhard N 4, 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

149. A SYSTEMATIC, PHENOTYPE-DRIVEN MUTAGENESIS SCREEN FOR GENE FUNCTION STUDIES: RECENT RESULTS OF THE MUNICH ENU-MOUSE-MUTAGENESIS SCREEN
Soewarto D 1, Wagner S 1, Rathkolb B 3, Fuchs H 1, Moor M 3, Klempt M 3, Howaldt M 3, Kalaydjiev S 2, Franz T 2, Schneider I 1, Marschall S 1, Boersma A 1, Schäble K 1, Tiedemann H 1, Schneltzler E 1, Steinkamp R 1, Alessandrini F 5, Jakob T 5, Binder E 9, Kremmer E 6, Behrendt H 5, Ring J 5, Zimmer A 7, Peters C 1, Flaswinkel H 3, Busch D 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

150. EXPRESSION AND FUNCTION OF BASP1: A COSUPPRESSOR 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

151. A ROLE FOR SONIC 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

152. ATP2B2 EXHIBITS DIFFERENTIAL FIRST EXON USAGE IN MOUSE BRAIN AND COCHLEA
Silverstein RS 1, Tempel BL 2
1 Graduate Program in Neurobiology & Behavior, University of Washington, Seattle, United States, 2 Department of Otolaryngology, University of Washington, Seattle, United States

153. EUMORPHIA AND THE EUROPEAN COMPREHENSIVE FIRST LINE PHENOTYPING PROTOCOL
Lad H V, Coghill and The Eumorphia Consortium E L
MRC Mammalian Genetics Unit, Harwell, United Kingdom

154. RAPID EFFICIENT PLACEMENT OF NEW MUTANT PHENOTYPES ON THE MOUSE GENETIC MAP
Rowe LB, Barter ME
The Jackson Laboratory, Bar Harbor, ME, United States

155. THE EUROPEAN MOUSE MUTANT ARCHIVE (EMMA
Zeretzke SZ 1, Hrabé de Angelis MHdA 1, Tocchini-Valentini GTV 2, Herault YH 3, Brown SB 4, Ährlund-Richter LAR 5, Mallo MM 6, Thornton JT 7
1 GSF, Research 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

156. AUTOMATED DNA PURIFICATION FROM MOUSE TAILS
Mulrooney C, Howe S, Robinson J, Oultram J, Sayle J
Tepnel Life Sciences, Manchester, United Kingdom

157. CHARACTERIZATION OF TWO NOVEL ENU-INDUCED CIRCADIAN MUTANT LINES
Godinho SIH, Shaw-Andrews L, Clay J, Bacon Y, Nolan PM
MRC, Harwell, United Kingdom

158. ENU MUTAGENESIS REVEALS A NEW ROLE FOR THE AF4 PROTEIN FAMILY IN NEURODEGENERATION
Oliver PL, Bitoun E, Clark J, Davies KE
MRC Functional Genetics Unit, Oxford, United Kingdom

159. CRANIOFACIAL GENE DISCOVERY IN MICE
Donahue LR, Curtain M, Giggey J, Guido V, Hurd J, Davisson M
The Jackson Laboratory, Bar Harbor, United States

160. IDENITIFICATION OF ENU-GENERATED MUTANTS FOR ANXIETY AND ACTIVITY IN AN OPEN FIELD TEST
Pletcher MT, Grabowski L, Wiltshire T, Tarantino L
The Genomics Institute of the Novartis Research Foundation, San Diego, United States

161. NEURAL CREST DEFICIT IN CRANIOFACIAL SKELETON PRECURSORS OF TS65DN MICE, A MODEL FOR DOWN SYNDROME
Roper RJ, Reeves RH
Johns Hopkins University School of Medicine, Baltimore, United States

162. ANALYSIS OF A NEW DOMINANT HAIRLOSS MUTANT MAPPING TO MOUSE CHROMOSOME 11
Weber JS 1, Rahajeng J 1, Kovar J 2
1 University of Nebraska, Lincoln, United States, 2 LI-COR BioSciences, Lincoln, United States

163. CORRECTION OF PATHOLOGICAL AGGRESSION IN THE ‘FIERCE’ MOUSE BY HUMAN NUCLEAR RECEPTOR 2E1
Abrahams BS, Kwok MCH, Trinh E, Budaghzadeh S, Hossain SM, Simpson EM
University of British Columbia, Vancouver, Canada

164. SENSITIVITY OF STRIATAL PROJECTION NEURONS TO MITOCHONDRIAL DYSFUNCTION IN OMI DEFICIENT MND2 MICE
Jones JM 1, Tallaksen-Greene S 2, Albin RL 2, Meisler MH 1
1 University of Michigan, Department of Human Genetics, Ann Arbor, United States, 2 University of Michigan, Department of Neurology, Ann Arbor, United States

165. CHARACTERIZATION OF NEW MICE MODELS OF MOTOR NEURON DISEASES
Achilli F 1, Nolan P 2, Fisher EMC 1
1 Institute of Neurology, London, United Kingdom, 2 MRC Mammalian Genetic Unit, Harwell, United Kingdom

166. FURTHER MAPPING OF THE MOUSE DEAFNESS MUTANT BRONX WALTZER
Taylor A 1, Cheong MA 2, Bussoli TJ 2, Kelly A 2, Steel KP 1
1 Wellcome Trust Sanger Institute, Cambridge, United Kingdom, 2 MRC Institute of Hearing Research, Nottingham, United Kingdom

167. NEW CANDIDATE GENES FOR WOBBLER, EXPRESSION PROFILING AND MODIFIED PHENOTYPE
Schmitt-John T, Drepper C, Hahn P, Mussmann A, Ulbrich M, Beckers J, Jockusch H
Univerity of Bielefeld, Bielefeld, Germany

168. A NOVEL MOUSE MUTATION HEMORRHAGIC HYDROCEPHALUS (HHY) MAPS TO CHROMOSOME 12
Mori N 1, Kuwamura M 2, Kinoshita A 2, Okumoto M 1, Yamate J 2
1 Research Institute for Advanced Science & Technology, Osaka Prefecture University, Osaka, Japan, 2 Laboratory of Veterinary Pathology, Graduate School of Agriculture & Biological Sciences, Osaka Prefecture University, Osaka, Japan

169. BONE MARROW DERIVED CELLS MEDIATE INFLAMMATORY ARTHRITIS PHENOTYPE IN ALI18 MUTANT MICE
Abe K 1, Wagner S 1, Kalaydjiev S 2, Jakob T 3, Franz TJ 2, Busch DH 2, Soewarto D 1, Fuchs H 1, Hrabé de Angelis M 1
1 Institute of Experimental Genetics, GSF National Research Center, Neuherberg, Germany, 2 Institute for Medical Microbiology, Immunology and Hygiene, Technical University Munich, Munich, Germany, 3 Division of Environmental Dermatology and Allergy, GSF National Research Center/Technical University Munich, Munich, Germany

170. MOUSE WT SNCA PROTECTS AGAINST HUMAN A53T SNCA-INDUCED SYNUCLEINOPATHY; HUMAN WT SNCA DOES NOT PROTECT
Cabin DE, Nussbaum RL
NHGRI/NIH, Bethesda, United States

171. REDUCED STARTLE RESPONSE AND TREMOR IN THE NEW MOUSE MUTANT CLOTH-EARS
Mackenzie FE 1, Parkinson NJ 2, Brooker D 1, Polley S 1, Glenister P 1, Fray M 1, Brown SDM 1
1 MRC Mammalian Genetics Unit, Harwell, United Kingdom, 2 MRC Prion Unit, London, United Kingdom

172. GASTRIN REGULATION OF SONIC HEDGEHOG PROCESSING CORRELATES WITH MAINTENANCE OF THE GASTRIC MUCOSAL ARCHITECTURE
Zavros Y 1, Eaton K 1, Low MJ 2, Samuelson LC 1, Merchant JL 1
1 University of Michigan, Ann Arbor, United States, 2 Vollum Institute, Oregon Health and Science University, Portland, United States

173. JOINT QTL ANALYSIS FOR MAMMARY TUMOR SUSCEPTIBILITY AND OBESITY
Gordon RR 1, Pomp D 1, Hunter KW 2
1 University of Nebraska, Lincoln, United States, 2 NCI/NIH, Bethesda, United States

174. A LOSS-OF-FUNCTION MUTATION IN NATRIURETIC PEPTIDE RECEPTOR 2 (NPR2) GENE IS RESPONSIBLE FOR MOUSE ACHONDROPLASIA
Tsuji T, Kunieda T
Okayama University, Okayama, Japan

175. DIETARY RESCUE AND POSITIONAL CLONING OF PEQUEÑO: A SECOND LOCUS FOR SHWACHMAN DIAMOND SYNDROME?
Loftus SK, Cannons J, Incao A, Chen A, Zerfas P, Bryant MA, Schwartzberg P, Biesecker LG, Pavan WJ
1 National Human Genome Research Institute, NIH, Bethesda, United States, 2 Diagnostic and Research Services Branch, Veterinary Resources Program, NIH, Bethesda, United States

176. DARK SKIN MOUSE MUTANTS REVEAL NEW GENES INVOLVED IN PIGMENTATION
McGowan K, Van Raamsdonk C, Aradhya S, Fitch K, Barsh G
Stanford University, Stanford, United States

177. BONE DEFECTS IN DYSMORPHOLOGY MUTANT MICE FROM THE MUNICH ENU-MUTAGENESIS SCREEN
Abe K, Grundner-Culemann E, Gailus-Durner V, Fuchs H, Hrabé de Angelis M
Institute of Experimental Genetics, GSF National Research Center, Neuherberg, Germany

178. TAKE OUR MICE – PLEASE!  ENU-DERIVED MUTANT STRAINS NOW AVAILABLE FROM THE JAX PGA
Svenson KL, Peters LL
The Jackson Laboratory, Bar Harbor, United States

179. CHRONIC LOW-LEVEL EXPOSURE TO PESTICIDES DURING DEVELOPMENT: ROLE OF PARAOXONASE (PON1)
Pettan-Brewer C, Cole TB, Walter BJ, Fisher JC, Richter RJ, Burbacher TM, Costa LG, Furlong CE
1 University of Washington, Seattle, United States, 2 University of Washington, Seattle, United States, 3 University of Washington, Seattle, United States, 4 University of Washington, Seattle, United States, 5 University of Washington, Seattle, United States, 6 University of Washington, Seattle, United States, 7 University of Washington, Seattle, United States, 8 University of Washington, Seattle, United States

180. MOUSE MUTANTS WITH HYPERACTIVITY: RECENT PROGRESS IN RIKEN ENU-MUTAGENESIS PROJECT
Wada Y 1, Masuya H 1, Kushida T 1, Kawai A 1, Nishii R 1, Miura I 1, Furuse T 1, Kobayashi K 1, Kaneda H 1, Suzuki T 1, Minowa O 1, Gondo Y 2, Noda T 1, Wakana S 1, Shiroishi T 1
1 Mouse Functional Genomics Research Group, RIKEN GSC, Tsukuba, Japan, 2 2Population and Quantitative Genomics Team, RIKEN GSC, Yokohama, Japan

181. THE PHENOTYPE OF AKT1, AKT2 AND AKT3 SINGLE AND DOUBLE KNOCKOUT MICE
Chen W, Hay N
1 University of Illinois at Chicago, Chicago, United Kingdom, 2 University of Illinois at Chicago, Chicago, United States

182. MODELS OF HUMAN CANCER AT THE CLICK OF A MOUSE: THE MOUSE TUMOR BIOLOGY (MTB) DATABASE
Bult CJ, Krupke DM, Allio T, Vincent M, Sundberg JP, Mikaelian I, Eppig JT
The Jackson Laboratory, Bar Harbor, United States

183. NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES – COMPARATIVE MOUSE GENOMICS CENTERS CONSORTIUM: TO IMPROVE OUR UNDERSTANDING OF THE BIOLOGICAL SIGNIFICANCE OF HUMAN POLYMORPHISMS
Packenham J
National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, United States

184. FUNCTIONAL ANALYSIS OF THE HYALOID MICROCIRCULATION IN A MOUSE MODEL OF RETINOBLASTOMA
Duckett AS, Leamen L, Cucevic V, Foster FS
Sunnybrook and Womens College Health Sciences Centre,  University of Toronto, Toronto, Canada

185. 3D LASER IMAGING OF MOUSE CRANIOFACIAL MUTANTS ISOLATED AFTER ENU MUTAGENESIS
Keener VL, Garcia M, Dawson B, Bacino C, Lee B, Justice MJ
Baylor College of Medicine, Houston, United States

186. MOUSE MODELS OF HUMAN DISEASE:  THE INDUCED MUTANT RESOURCE AND MOUSE REPOSITORY AT THE JACKSON LABORATORY
Lane DB, Lutz CM, Rockwood SF, Linder CC, Davisson MT
The Jackson Laboratory, Bar Harbor, United States

187. IMPROVING RESEARCH AND REDUCING ANIMAL POPULATIONS THROUGH TECHNOLOGY
Drummond A, Ferreira A, Ferreira J
Auckland University, Auckland, Netherlands

188. STUDYING THE INDUCTION OF MAMMARY TUMOR FORMATION IN TRANSGENIC MICE EXPRESSING PHOSPHO-MUTANT BETA-CATENIN
Kockeritz LK 1, Wood GA 2, Done SJ 3, Woodgett JR 1
1 Department of Medical Biophysics, University of Toronto, Toronto, Canada, 2 Department of Pathobiology, University of Guelph, Guelph, Canada, 3 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada

189. THE ROLE OF CALPAIN 3 IN MDM MOUSE MUSCULAR DYSTROPHY
Huebsch KA 1, Spencer MJ 2, Cox GA 1
1 The Jackson Laboratory, Bar Harbor, United States, 2 Department of Pediatrics and UCLA Duchenne Muscular Dystrophy Research Center, University of California, Los Angeles, United States

190. GENCYCLOPEDIA: A COMPREHENSIVE ANIMAL RESEARCH TOOL FOR ENU-MUTAGENESIS AND LARGE SCALE PHENOTYPING
Laufs J 1, Kurzmann M 1, Schöniger M 1, Zinser C 1, Gnodtke A 1, Kukulies M 2, Sedlmeier R 1, Wattler S 1, Nehls M 1
1 Ingenium Pharmaceuticals, Martinsried, Germany, 2 Pieris Proteolab AG, Freising-Weihenstephan, Germany

191. EMERILLON THERAPEUTICS’ ACB/BCA RECOMBINANT CONGENIC STRAINS: GENE MAPPING AND DISSECTION OF COMPLEX TRAITS
Fortin A, Skamene E
Emerillon Therapeutics Inc., Montreal, Canada

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