Definition of the locus responsible for systemic carnitine deficiency within a 1.6-cM region of mouse chromosome 11 by detailed linkage analysis
- Univ. of Tokyo (Japan); and others
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 systemic 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. 21 refs., 2 figs.
- OSTI ID:
- 465959
- Journal Information:
- Genomics, Vol. 33, Issue 2; Other Information: PBD: 15 Apr 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENE MUTATIONS
DNA-CLONING
GENE RECOMBINATION
GENETIC MAPPING
CHROMOSOMES
MICE
HEREDITARY DISEASES
PHENOTYPE
METABOLIC DISEASES
BIOLOGICAL MODELS
CARBOXYLIC ACIDS
OXIDATION
RECESSIVE MUTATIONS
STATISTICS
BIOLOGICAL MARKERS
FLUORESCENCE
IN-SITU HYBRIDIZATION
CARNITINE
MITOCHONDRIA