Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation

Proc Natl Acad Sci U S A. 1976 May;73(5):1693-7. doi: 10.1073/pnas.73.5.1693.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Female
  • Genes*
  • Genetic Linkage
  • Heterozygote
  • Hydrogen-Ion Concentration
  • Male
  • Mice
  • Mutation
  • Ornithine / metabolism
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Orotic Acid / analysis
  • Phenotype
  • Sex Chromosomes
  • Urinary Bladder Calculi / enzymology*
  • Urinary Bladder Calculi / genetics

Substances

  • Orotic Acid
  • Ornithine