title: 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.
abstract: 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.
authors.affiliation: Life Sciences Division, Oak Ridge National Laboratory, P. O. Box 2009, Oak Ridge, TN 37831-8077, USA. rinchikem@ornl.gov
authors.forename: Eugene M
authors.initials: EM
authors.lastname: Rinchik
authors.forename: Donald A
authors.initials: DA
authors.lastname: Carpenter
authors.forename: Dabney K
authors.initials: DK
authors.lastname: Johnson
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003433:Crosses, Genetic; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005038:Ethylnitrosourea / Q000633:toxicity; D005260:Female; D017353:Gene Deletion; D005804:Genes, Lethal; D005808:Genes, Recessive; D005816:Genetic Complementation Test; D006801:Humans; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D016296:Mutagenesis; D009153:Mutagens / Q000633:toxicity; D009154:Mutation; D010641:Phenotype; D013045:Species Specificity
chemical_list: D009153:Mutagens; D004247:DNA; D005038:Ethylnitrosourea