International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


MUTATION OF A NOVEL GENE RESULTS IN ABNORMAL DEVELOPMENT OF SPERMATID FLAGELLUM, REDUCED ADULT BODY FAT MASS AND LOSS OF INTER-MALE AGGRESSION IN MICE

Grant MacGregor
Emory University School of Medicine
Center for Molecular Medicine,
1462 Clifton Rd NE, 403-E
Atlanta, GA 30322, USA

Co-Authors: 1,2)Campbell P, 2)Waymire K, 1,2)Heier R, 3,4)Sharer C, 4,5)Day D, 6)Friedrich G, 7)Burmeister M, 4,5)Bartness T, 8)Russell L, 3,4)Young L 9)Zimmer M, 10)Jenne D
Institutions: 1)Graduate Program in Genetics and Molecular Biology, Emory University, 2) Center for Molecular Medicine, University School of Medicine, 3) Dept of Psychiatry, Emory University, 4) NSF Center for Behavioral Neurosciences, Emory University, 5) Dept of Biology, Georgia State University, 6) Dept of Molecular Genetics, Baylor College of Medicine, 7) Mental Health Research Institute, University of Michigan, 8) Dept of Physiology, Southern Illinois University School of Medicine, 9) Institute of Clinical Biochemistry & Pathobiochemistry, University of Würzburg, 10) Dept of Neuroimmunology, Max Planck Inst of Neurobiology

The ROSA22 gene trap line of mice was identified during a screen for recessive mutations that cause male sterility. The basis for the sterility involves defective formation of the spermatid flagellum. The mutation is pleiotropic. Homozygous mutant ROSA22 animals display reduced body fat mass as adults. In addition, although they exhibit normal mating behavior, mutant males fail to display inter-male aggression. The gene mutated by the single retroviral insertion is located on chromosome 10 and is closely flanked by two previously identified genes. Expression of the flanking genes appears to be unaffected by the retroviral insertion. The gene is predicted to encode a novel transmembrane protein, and contains motifs involved in intracellular protein sorting. The trapped allele is expressed in polarized epithelial cells in a wide range of tissues, as well as in the CNS and PNS and developing male germ cells. When expressed in COS cells, the gene product localizes in a punctate manner to the ER with occasional co-localization with microtubules. Orthologs for the mutated gene appear to be present in humans, frogs and fish, but not in fly or worm. Models will be presented for the possible mechanism in which this novel gene product functions.


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