Definition of the locus responsible for systemic carnitine deficiency within a 1.6-cM region of mouse chromosome 11 by detailed linkage analysis.
Carnitine is an essential cofactor for oxidation of mitochondrial fatty acids. Carnitine deficiency results in failure of energy production by mitochondria and leads to metabolic encephalopathy, lipid-storage myopathy, and cardiomyopathy. The juvenile visceral steatosis (JVS) mouse, an animal model of systematic carnitine deficiency, inherits the JVS phenotype in autosomal recessive fashion, through a mutant allele mapped to mouse chromosome 11. As a step toward identifying the gene responsible for JVS by positional cloning, we attempted to refine the jvs locus in the mouse by detailed linkage analysis with 13 microsatellite markers, using 190 backcross progeny. Among the 13 loci tested, 5 (defined by markers D11Mit24, D11Mit111, D11Nds9, D11Mit86, and D11Mit23) showed no recombination, with a maximum lod score of 52.38. Our results implied that the jvs gene can be sought on mouse chromosome 11 within a genetic distance no greater than about 1.6 cM.
Okita
K
K
Laboratory of Molecular Medicine, Institute of Medicine Science, University of Tokyo, Japan.
Tokino
T
T
Nishimori
H
H
Miura
K
K
Nikaido
H
H
Hayakawa
J
J
Ono
A
A
Kuwajima
M
M
Matsuzawa
Y
Y
Nakamura
Y
Y
D000818:Animals; D002331:Carnitine / Q000172:deficiency*; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D005260:Female; D008040:Genetic Linkage; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018895:Microsatellite Repeats
D002331:Carnitine