Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.
Mice with the X-chromosomal sparse-fur (spf) mutation frequently have urinary bladder stones composed mostly of orotic acid, which was identified by the following criteria: ultraviolet and infrared absorption, spectra, chromatographic behavior, melting point, and reactivity in a specific color test. This clue led to the discovery that spf-bearing mice have an abnormal form of liver ornithine carbamoyltransferase (carbamoylphosphate:L-ornithine carbamoyltransferase, EC 2.1.3.3). Normal ornithine carbamoyltransferase has maximum activity at pH 7.6-8.0 and 80% of maximum activity at pH 10.0.
D000483:Alleles; D000818:Animals; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006579:Heterozygote; D006863:Hydrogen-Ion Concentration; D008297:Male; D051379:Mice; D009154:Mutation; D009952:Ornithine / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000032:analysis; D010641:Phenotype; D012730:Sex Chromosomes; D001744:Urinary Bladder Calculi / Q000201:enzymology* / Q000235:genetics
D009963:Orotic Acid; D009952:Ornithine