International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany

Plenary Presentations * Oral Presentations *
Poster Presentations: Behavioural Genetics and Genomics * Development and Stem Cells * Functional Genome Analysis * Mouse Models of Human Disease * Mouse System Biology Bioinformatics * Multigenic and Multifactorial Trait Analysis * Nutrition and Metabolic Disease * Phenotyping Methods Imaging * The Genetics and Genomics of Infectious Disease *
Verne Chapman Memorial Lecture * Table of Contents * Sponsor/Exhibitor List * Awards * Photographs

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Mouse Models of Human Disease

POSTER ABSTRACTS
POSTERS 73 - 134

73. A MOUSE MODEL OF INFLAMMATORY ARTHRITIS
Abe K, Wagner S, Kalaydijev S, Jakob T, Soewarto D, Fuchs H, Hrabe de Angelis M

74. A MODIFIER SCREEN FOR HUNTINGTON’S DISEASE
Acevedo-Arozena A, Chrobot N, Rubinsztein D C, Brown S D

75. ANALYSIS OF MCRII: A CONSERVED REGION OF THE WT1 ANTISENSE TRANSCRIPT
Allsop J, Moorwood K, Brown K, Malik K Ward A,

76. CHARACTERIZATION AND MAPPING OF THE YODA MUTATION
Barbaric I, Blake S, Hunter AJ, Brown SDM

77. FUNCTIONAL ANALYSIS OF THE DEVELOPMENT OF DIABETIC NEPHROPATHY IN MOUSE MODELS OF TYPE II DIABETES
Bentley E, Paul C L, Quarterman J M, Goldsworthy M, Cox R D

78. BARTMICE (BAYLOR, REPRODUCTIVE TRANSGENICS): A NATIONAL RESOURCE OF MICE, MUTANT IN GENES AFFECTING SEX DETERMINATION AND FERTILITY
Poirier C, Overbeek P, Bishop CE

79. MOUSE SPERM AND DNA ARCHIVING – BUILDING A PLATFORM FOR GENOME RESEARCH
Boersma A, Marschall S, Peters D, Hrabe de Angelis M

80. PATHOGENESIS OF CD4⁺ T CELL MEDIATED INFLAMMATION IN AN AUTOIMMUNE MOUSE MODEL OF PULMONARY DISEASE
Bruder D, Westendorf AM., Geffers R., Gruber AD., Buer J.

81. DEVELOPMENT OF SKIN AND HAIR-RELATED DEFECT MICE DERIVED ENU-MUTAGENESIS
Cho KH, Nam Y Y, Cho J W, Song C W, Han S S

82 A MUTATION IN ELOVL3 IS ASSOCIATED WITH HYPOLIPIDEMIA IN SCRAGGLY MICE
Collins K, DiRusso C, Herron B, Flaherty L

83. USING ENU TO DISCOVER GENES IMPORTANT FOR EYE DEVELOPMENT
Cross SH, Thaung C, Morgan J, West K, McKie L, Brunet J F, Brown SDM, Jackson I J

84. THE USE OF MICROARRAYS TO STUDY A MOUSE MODEL OF DISORDERS OF CHOLESTEROL BIOSYNTHESIS
Cunningham D, Swartzlander D, Caldas H, Armbruster D, Ray W, Herman G

85. FIRST APPROACH TO A NEW DOUBLE KO MOUSE: P21 AND P53 NULL. THE EPIGENETIC AS A KEY ANSWER FOR TUMORS
de la Cueva E, Herranz M, Fraga MF, Esteller M, Martín-Caballero J.

86. CONNECTING WITH PHENOTYPE: MAKING THE MOST OF WHAT WE KNOW
Eppig JT, Smith C, Goldsmith C W, Burkhart D L, Lu I, Taylor B A, Vanden Borre P, Washburn L L, Lennon-Pierce M, Lutz C

87. HAPLOINSUFFICIENCY OF CTCF LEADS TO TUMOR DEVELOPMENT IN MULTIPLE TISSUES IN MICE
Moore J M, Gurley K, Kemp C, Filippova G N

88. MUTATIONS IN DYNEIN LINK MOTOR NEURON DEGENERATION TO DEFECTS IN RETROGRADE TRANSPORT
Hafezparast M, Ahmad-Annuar A, Ruhrberg C, Lalli G, Shima D, Toda T, Schiavo G, Ball S, Peters J, Bowen S, Martin J E, Fisher E M C

89. FROM PHENOTYPE TO GENOTYPE: CHROMOSOMAL MAPPING AND SEQUENCING OF CANDIDATE GENES OF A HYPER IGE MOUSE MUTANT GENERATED BY GENOME WIDE MUTAGENESIS REVEALS A NOVEL MUTATION IN ZAP70
Flaswinkel H, Soewarto D, Köllisch G, Howaldt M, Hrabe de Angelis M, Balling R, Behrendt H, Ring J, Pfeffer K, Wolf E Jakob T

90. PATHOLOGY OF CUSTOMIZED CELL TYPE SPECIFIC AUTOIMMUNITY IN HEMAGGLUTININ-TRANSGENIC MICE
Gruber AD, Bruder D, Westendorf AM, Templin M, Buer J

91. CHARACTERIZATION OF MOUSE MUTANTS WITH KINKY TAIL AND COILED TAIL FROM THE MUNICHENU MUTAGENESIS SCREEN
Grundner-Culemann E, Abe K, Fuchs H, Hrabe de Angelis M

92. THE MOLECULAR DIFFERENCE BETWEEN RHABDOMYOSARCOMA CAUSED BY PATCHED- AND P53- MUTATIONS
Kappler R, Bauer R, Calzada-Wack J, Rosemann M, Hemmerlein B, Hahn H

93. JEFF, A SINGLE GENE MODEL OF OTITIS MEDIA
Hardisty R E, Morse S A, Logan K, Guionaud S, Sancho-Oliver S, Erven A, Steel KP, Brown SDM

94. TYPE 1 DIABETOGENIC GENES CENTROMERIC TO LMP2 IN NOD MICE
Hattori M, Fujisawa T, Noso S, Hattori K, 1, Lund T, Haskins K, Flavell R A, Wakeland E K

95. COMPLEMENT FACTOR 5 IS A GENETIC DETERMINANT OF LIVER FIBROGENESIS IN MICE AND HUMANS
Hillebrandt S, Matern S, Lammert F

96. CHARACTERISATION AND GENETICS OF A MOUSE MODEL OF HYPOPHOSPHATASIA
Hough T, Fisher E M C, Cheeseman M, Hunter AJ, Brown SDM

97. NOVEL MOUSE MODELS OF DIABETES MELLITUS -- IDENTIFICATION, MAPPING AND CHARACTERIZATION OF MUTANTS FROM THE RIKEN ENU MUTAGENESIS PROJECT
Inoue M, Sakuraba Y, Motegi H, Matsui J, Toki H, Shigeyama Y, Kubota N, Kaneda H, Ishijima J, Adachi T, Kagami T, Inoue A, Wakana S, Gondo Y, Minowa O, Shiroishi T, Noda T

98. IDENTIFICATION OF A MISSENSE MUTATION RESPONSIBLE FOR NEUROMUSCULAR DEGENERATION IN mnd2 MICE
Jones JM, Ji W, Saunders T L, Van Keuren M L, Meisler M H

99. INTERACTION OF SANS, THE HUMAN USHER 1G/MOUSE JACKSON SHAKER GENE PRODUCT, WITH OTHER USHER 1 GENE PRODUCTS
Kikkawa Y, Adato A, El-Amraoui A, Kominami R, Petit C, Yonekawa H

100. HUMAN DISEASE MODELS AT THE INDUCED MUTANT RESOURCE
Lane DB, Rockwood S F, Mobraaten L E, Davisson M T

101. MOUSE MODELS OF TELOMERE DYSFUNCTION
Lechel A, Ande S, Rudolph KL

102. DEVELOPMENT OF NEW MODELS FOR THE DOWN SYNDROME BY CHROMOSOMAL ENGINEERING IN THE MICE
Levavasseur F, Besson V, Brault V, Duchon A, Labbe M, Luo F, Magnol L, Herault Y,

103. LOCI ON CHROMOSOMES 2, 4, 9 AND 16 FOR BODY WEIGHT, BODY LENGTH AND ADIPOSITY IDENTIFIED IN A GENOME SCAN OF AN F₂ INTERCROSS BETWEEN THE 129P3/J AND C57BL/6BYJ MOUSE STRAINS
Li X, Bachmanov A A, McDaniel AH, Lu K, Li S, Tordoff M G, Price R A, Reed D R

104. RETINAL COLOBOMA IN FLS MICE
Matsuura T, Kodama Y, Ozaki K, Hirasawa S, Narama I

105. IGF2: MULTIPLE MECHANISMS CO-ORDINATE BI-ALLELIC AND VARIEGATED EXPRESSION IN THE CHOROID PLEXUS
Menheniott T R, Charalambous M, Bennett W R, Kelly S M, Dell G, Ward A

106. AUTOMATED DNA PURIFICATION FROM MOUSE TAILS
Mulrooney C, Howe S, Oultram J, Robinson J, Maloney S, Sayle J

107. PANCREAS ANOMALY AND INTESTINAL TUMORS IN THE MOUSE SMALL EYE MUTANTS, PAX6^SEY3H AND PAX6^SEY4H
Nitta Y, Yoshida K, Nakagata N

108. TRUNCATION OF THE SHAKER-LIKE VOLTAGE-GATED POTASSIUM CHANNEL, KV1.1, CAUSES MEGENCEPHALY
Petersson S, Persson A-S, Johansen J, Ingvar M, Nilsson J, Klement G, Århem P, Schalling M, Lavebratt C

109. MOLECULAR CHARACTERIZATION OF THE POLYCYSTIC KIDNEY DISEASE CAUSING GENE BICC1
Price S J, Davis K L, Guay-Woodford L M, Bryda E C

110. MUTANT MICE SHOWING CLINICAL CHEMISTRY DEVIATIONS AS MODELS FOR HUMAN NEPHROPATHIES
Rathkolb B, Tran TV, Klempt M, Mohr M, Soewarto D, Hoffmann S, Hrabe de Angelis M, Wolf E Aigner B

111. NEW MUTANT MOUSE MODELS FOR INHERITED IRON METABOLISM DISORDERS
Rathkolb B, Klempt M, Mohr M, Soewarto D, Hoffmann S, Wagner S, Hrabe de Angelis M, Wolf E, Aigner B

112. GENETIC INSTABILITY IN A TRANSGENIC MOUSE MODEL FOR PHILADELPHIA CHROMOSOME-POSITIVE ALL
Rudolph C, Steinemann D, Hegazy AN, Schrock E, Klein C, Schlegelberger B

113. PHENOTYPIC CHARACTERIZATION AND MAPPING of LITTLE CHIN: an ENU-GENERATED MOUSE MUTANT THAT SHOWS CLEFT PALATE AND MICROGNATHIA
Saadi I, Herron B J, Bjork B C, Lund J J, Maas R L, Beier DR

114. THE Mus spretus VARIANT FOR Prkdc GENE, A FULLY DOMINANT ALLELE INVOLVED IN THE GENETIC DETERMINISM OF RESISTANCE TO GAMMA-RADIATION-INDUCED THYMIC LYMPHOMAS
Santos J, López P, Vaquero C, Matabuena M, Villa M, Fernández P, Montagutelli X, Szatanik M, Gué net JL and Fernández-Piqueras J.

115. GENERATION AND ANALYSIS OF A MOUSE MUTANT DEFICIENT FOR THE ADHESION MOLECULE MADCAM-1
Schippers A, Leuker C, Gruber A, Wagner N, Mueller W

116. IDENTIFICATION OF A NOVEL MOUSE MUSCULAR DYSTROPHY AND DEVELOPMENTAL LIMB DEFECT SYNDROME
Sher R B, Cox G A

117. DISRUPTION OF THE IMPRINTED GENE GRB10 IN MICE LEADS TO DISPROPORTIONATE OVERGROWTH WITH EFFECTS ON METABOLISM
Smith F M, Charalambous M, Bennett W R, Crew T E, Mackenzie F, Ward A.

118. SIXTY-FOUR MUTANTS FROM ENU MUTAGENESIS PROGRAM IN KIT/KRIC
Song C W, Cho KH, Cho J W, Lee P S, Kim Y E, Cha D S, Park H J, Kim C M, Kang M S, Nam Y Y, Yoon S J, Han S S

119. CHARACTERISATION AND GENETIC MAPPING OF THE PROGRESSIVE DEAFNESS MOUSE MUTANT OBLIVIOUS
Spiden S L, Fuchs H, Hrabe de Angelis M, Steel KP

120. UPDATE FROM JAX PGA: HIGH-THROUGHPUT PHENOTYPING OF MUTAGENIZED AND INBRED STRAINS PROVIDES ROBUST NEW MODELS OF HUMAN DISEASE
Svenson K L, Paigen B, O’Brien T P, Bult CJ, Macauley J B, Peters L L

121. CHARACTERIZATION OF alien, AN ENU-DERIVED MUTANT MOUSE WITH DEFECTS IN THE SONIC HEDGEHOG SIGNALING PATHWAY
Tran P, Herron B, Parker K, Qiu H, Beier DR

122. CHARACTERISATION OF ENU MUTANTS THAT ARE POTENTIAL MODELS FOR HUMAN CARDIOVASCULAR DISEASE
Van Agtmael T, McKie L, West K, Cross S, Jackson I J

123. A SYSTEMATIC, PHENOTYPE-DRIVEN MUTAGENESIS FOR GENE FUNCTION STUDIES: RECENT RESULTS OF THE MUNICH ENU-MOUSE-MUTAGENESIS SCREEN
Soewarto D, Wagner S, Rathkolb B, Fuchs H, Mohr M, Klempt M, Howaldt M, Kalaydijev S, Franz T, Schneider I, Marschall S, Boersma A, Schäble K, Tiedemann H, Schneltzer E, Steinkamp R, Alessandrini F, Jakob T, Binder E, Kremmer E, Behrendt H, Ring J, Zimmer A, Peters C, Flaswinkel H, Busch D, Pfeffer K, Klopstock T, Gekeler F, Ohl F, Balling R, Wolf E and Hrabe de Angelis M

124. ENU-INDUCED MUTANTS WITH HYPERACTIVITY: TOWARD A MOUSE MODEL OF ATTENTION DEFICITS AND HYPERACTIVITY DISORDER (ADHD)
Wada Y, Masuya H, Kaneda H, Ishijima J, Kobayashi K, Kawai A, Kushida T, Nishii R, Gondo Y, Noda T, Wakana S, Shiroishi T

125. RUBY EYE ACTS SEMIDOMINANTLY TO AFFECT HPS PATHWAYS
Webb L S, Gwynn B, Ciciotte S L, Smith R S, Peters L L

126. CD4+ T CELL MEDIATED CHRONIC INTESTINAL DISEASE: IMMUNE REGULATION VERSUS INFLAMMATION
Westendorf AM, Geffers R, Templin M, Buer J, Bruder D.

127. INADVERTANT INACTIVATION OF A NEARBY GENE IDENTIFIED BY ANALYSIS OF SEVERAL PLANH2 KNOCKOUT MOUSE LINES
Westrick R J, Mohlke K L, Korepta L M, Manning S L, Aiyagari A, Dougherty K M, Ginsburg D

128. A SENSITIZED ENU MUTAGENESIS SCREEN FOR DOMINANT GENETIC MODIFIERS OF THROMBOSIS IN THE FACTOR V LEIDEN MOUSE
Westrick R J, Manning S L, Aiyagari A, Siemieniak D R, Korepta L M, Ginsburg D

129. FUNCTIONAL CHARACTERISATION OF GENE TRAP MOUSE MUTANTS
Yalcin S, Floss T, Knobeloch K P, Eichele G, Melchner Hv, Wurst W, Lehrach H, Ruiz P

130. A SMALL DELETION HOTSPOT IN THE TYPE II KERATIN GENEmK6irs1/Krt2-6g ON MOUSE CHROMOSOME 15, A CANDIDATE FOR CAUSING THE WAVY HAIR OF THE Caracul (Ca) MUTATION
Kikkawa Y, Oyama A, Ishii R, Miura I, Amano T, Ishii Y, Yoshikawa Y, Masuya H, Wakana S, Shiroishi T, Taya C, Yonekawa H

131. GENETIC ANALYSIS OF THE HAIRPOOR MICE DERIVED FROM ENU-MUTAGENESIS
Kim J K, Kim E, Cha D S, amNam Y Y, Song C W, Yoon SK

132. SEX HORMONE RESPONSIBLE FOR GENERATION OF HEPATOCELLULAR CARCINOMA IN TRANSGENIC MICE EXPRESSING M-H-RAS
Wang A G, Moon H B, Lee D S, Yu DY

133. “MONTEZUMA” – A GENETIC IBD MOUSE MODEL CAUSED BY MUTATION OF A NOVEL GENE
Zeitlmann L, Schneider B, Grosse J

134. THE EUROPEAN MOUSE MUTANT ARCHIVE (EMMA)
Zeretzke S, Tocchini-Valentini G, Herault Y, Brown S, Ahrlund-Richter L, Mallo M, Cameron G, Hrabe de Angelis M