Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15

Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):844-9. doi: 10.1073/pnas.022628199. Epub 2002 Jan 15.


Eleven independent, recessive, N-ethyl-N-nitrosourea-induced mutations that map to a approximately 1- to 2-cM region of mouse chromosome (Chr) 7 homologous to human Chr 11p14-p15 were recovered from a screen of 1,218 gametes. These mutations were initially identified in a hemizygous state opposite a large p-locus deletion and subsequently were mapped to finer genomic intervals by crosses to a panel of smaller p deletions. The 11 mutations also were classified into seven complementation groups by pairwise crosses. Four complementation groups were defined by seven prenatally lethal mutations, including a group (l7R3) comprised of two alleles of obvious differing severity. Two allelic mutations (at the psrt locus) result in a severe seizure and runting syndrome, but one mutation (at the fit2 locus) results in a more benign runting phenotype. This experiment has added seven loci, defined by phenotypes of presumed point mutations, to the genetic map of a small (1-2 cM) region of mouse Chr 7 and will facilitate the task of functional annotation of DNA sequence and transcription maps both in the mouse and the corresponding human 11p14-p15 homology region.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 11 / genetics*
  • Crosses, Genetic
  • DNA / genetics*
  • DNA Mutational Analysis
  • Ethylnitrosourea / toxicity
  • Female
  • Gene Deletion
  • Genes, Lethal
  • Genes, Recessive
  • Genetic Complementation Test
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Mutagenesis
  • Mutagens / toxicity
  • Mutation*
  • Phenotype
  • Species Specificity


  • Mutagens
  • DNA
  • Ethylnitrosourea