The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34

Genomics. 1996 Aug 15;36(1):182-4. doi: 10.1006/geno.1996.0442.

Abstract

The autosomal recessive mouse mutation sarcosinemia (sar), which was discovered segregating in the progeny of a male whose premeiotic germ cells had been treated with the mutagen ethylnitrosourea, is characterized by a deficiency in sarcosine dehydrogenase activity. Using an intersubspecific cross, we mapped the sar locus to mouse chromosome 2, approximately 15-18 cM from the centromere. The genetic localization of this locus in the mouse allows the identification of a candidate region in human (9q33-q34) where the homologous disease should map.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Animals
  • Centromere / genetics
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 9 / genetics*
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Microsatellite Repeats
  • Mutation*
  • Polymorphism, Genetic
  • Sarcosine / blood
  • Sarcosine / metabolism*

Substances

  • Sarcosine