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physiological mechanism causing systemic carnitine de- syndrome of systemic carnitine deficiency. Clinical, morphologi-
ficiency is still unclear. By detailed linkage analysis, we cal, biochemical and pathophysiologic features. Neurology 25:
1624.
have localized the jvs locus within a region of approxi- 10. Koizumi, T., Nikaido, H., Hayakawa, J., Nonomura, A., and
mately 1.6 cM on mouse chromosome 11, flanked by the Yoneda, T. (1988). Infantile disease with microvesicular fatty
loci defined by markers D11Mit141, D11Mit25, infiltration of viscera spontaneously occurring in the C3H-H-27
D11Mit154, or D11Mit87 proximally and D11Mit241 strain of mouse with similarities to Reyes syndrome. Lab.
distally. However, if in defining the jvs locus we base Anim. 22: 8387.
our calculations only on affected homozygote progeny on 11. Kuwajima, M., Kono, N., Horiuchi, M., Imamura, Y., Ono, A.,
Inui, Y., Kawata, S., Koizumi, T., Hayakawa, J., Saeki, T., and
the grounds that penetrance of the hereditary defect in Tarui, S. (1991). Animal model of systemic carnitine deficiency:
mice may not be 100%, the region containing the jvs Analysis in C3H-H-27 strain of mouse associated with juvenile
locus expands to a segment of approximately 3.2 cM visceral steatosis. Biochem. Biophys. Res. Commun. 174: 1090
between D11Mit153 and D11Mit207. In the former case, 1094.
we now cover the region of interest with YAC clones. In 12. McGarry, J. D., and Foster, D. W. (1980). Systemic carnitine
deficiency. N. Engl. J. Med. 303: 1413.
the latter case, we need to expand a physical contig
13. Nikaido, H., Horiuchi, M., Hashimoto, N., Saheki, T., and Haya-
map toward isolation of candidate genes in the mouse. kawa, J. (1995). Mapping of jvs (juvenile visceral steatosis)
Identification of the jvs gene will aid in further under- gene, which causes systemic carnitine deficiency in mice, on
standing fatty acid metabolism and diseases such as chromosome 11. Mamm. Genome 6: 369370.
cardiomyopathy. 14. Pande, S. V. (1975). A mitochondrial carnitine acylcarnitine
translocase system. Proc. Natl. Acad. Sci. USA 72: 883887.
15. Sato, T., Tanigami, A., Yamakawa, K., Akiyama, F., Kasumi,
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