18th International Mouse Genome Conference
17-22 October 2004, Seattle, USA
Plenary Presentations * Oral
Presentations * Poster
Abstracts * Photos
Verne Chapman Memorial Lecture * Table
of Contents * Attendees * Awards
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