Genetic analyses of motor ataxia mutant mice

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We worked out genetic mapping of five ataxia mutants derived from a large-scale mutagenesis program. As a result, M100612, M100651, M100718, M101243, M101479 were mapped on chromosomes 10, 2, 2, 11 and 6 respectively. Rotor rod analysis revealed that heterozugotes of four of five mutants showed obvious defect on motor coordination except for M101479. We worked out detailed analyses on M100651 which shows obvious ataxia and dilution of coat color. The cerebellum shows no morphological change of neuronal cells and their alignments. The cerebellum also showed any abnormalities in electrophysiologic analysis of the cerebellum. We worked out fine mapping analysis of M100651 with 591 progeny from the backcross ( (C57FIL/6J x DBA/2J)F1-M100651/+ x DBA/2J). As a result, M100651 was mapped on 7.2Mb (7152197bp) interval between genetic markers D21Mit484 (118399166-118399277bp) and D2Mit398 (125551330-125551474). We have searched candidate gene for M100651 mutation with a web-based knowledge base search system, PosMed (http://omicspace.riken.jp/PosMed/). A candidate gene for Hermansky-Pudlak Syndrome, Pldn is one of the candidate of M100651.