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Publication : Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development.

First Author  Rinchik EM Year  1993
Journal  Genetics Volume  135
Issue  4 Pages  1107-16
PubMed ID  8307326 Mgi Jnum  J:15677
Mgi Id  MGI:63792 Doi  10.1093/genetics/135.4.1107
Citation  Rinchik EM, et al. (1993) Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development. Genetics 135(4):1107-16
abstractText  Deletion mutations at the albino (c) locus have been useful for continuing the development of fine-structure physical and functional maps of the Fes-Hbb region of mouse chromosome 7. This report describes the molecular analysis of a number of radiation-induced c deletions that, when homozygous, cause death of the embryo during preimplantation stages. The distal extent of these deletions defines a locus, pid, (preimplantation development) genetically associated with this phenotype. The proximal breakpoints of eight of these deletions were mapped with respect to the Tyr (tyrosinase; albino) gene as well as to anonymous loci within the Fah-Tyr region that are defined by the Pmv-31 viral integration site and by chromosome-microdissection clones. Rearrangements corresponding to the proximal breakpoints of two of these deletions were detected by Southern blot analysis, and a size-altered restriction fragment carrying the breakpoint of one of them was cloned. A probe derived from this deletion fusion fragment defines a locus, D7Rn6, which maps within (or distal to) the pid region, and which discriminates among the distal extents of deletions eliciting the pid phenotype. Extension of physical maps from D7Rn6 should provide access both to the pid region and to loci mapping distal to pid that are defined by N-ethyl-N-nitrosourea-induced lethal mutations.
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