References
Query Results -- Details
MGI Accession ID: MGI:52271
J Number: J:3762
Other Accession IDs:
Title: High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation.
Authors: Gondo Y; Gardner JM; Nakatsu Y; Durham-Pierre D; Deveau SA; Kuper C; Brilliant MH
Journal: Proc Natl Acad Sci U S A
Volume: 90
Issue: 1
Date: 1993 Jan 1
Year: 1993
Pages: 297-301
Review Status: Peer Reviewed
Abstract:
The mouse pink-eyed unstable (p(un)) mutation, affecting coat color, exhibits one of the highest reported reversion frequencies of any mammalian mutation and is associated with a duplication of genomic DNA at the p locus. In this study, genomic clones containing the boundaries of the p(un) duplication were isolated and characterized. The structure of these sequences and their wild-type and revertant counterparts were analyzed by restriction mapping, PCR product analysis, DNA sequence analysis, and pulsed-field gel electrophoresis. DNA from p(un) was distinguished from wild-type and revertant DNA by a head-to-tail tandem duplication of approximately 70 kilobases. No differences were detected between revertant and wild-type DNAs. Thus, the reversion in phenotype of p(un) mice is coupled with the loss of one copy of an approximately 70-kilobase duplicated segment. Testable models are presented to account for p(un) reversion.
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