Faculty Research 1990 - 1999


Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning.

Document Type


Publication Date



Animal, Blotting-Southern: mt, DNA: ge, Eye-Color: ge, Genes, Homozygote, Mice, Mice-Inbred-C57BL, Mice-Mutant-Strains, Mutation, Restriction-Mapping, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Tyrosine-Hydroxylase: ge

JAX Source

Science 1991 Apr 26; 252(5005):566-9.


GM43840, CA06927, RR05529


DNA sequences associated with the mouse pink-eyed unstable mutation were identified in the absence of closely linked molecular markers and without prior knowledge of the encoded gene product. This was accomplished by "genome scanning,: a technique in which high-resolution Southern blots of genomic DNAs were hybridized to a dispersed and moderately repetitive DNA sequence. In this assay, pink-eyed unstable DNA was distinguished from the DNA of wild-type and revertant mice by enhanced hybridization to one of several hundred resolved fragments. The fragment showing enhanced hybridization in pink-eyed unstable DNA was cloned and found to lie within a DNA duplication that is located close to, or within, the pink-eyed dilution locus. The duplication associated with the mouse pink-eyed unstable mutation may mediate the high reversion frequency characteristic of this mutation.