Characterization of Bsk Mice: The Bsk Mutation Does Not Involve a Recombination of Cornea-Specific Keratin 12 and Skin-Specific Hair Keratin Genes

The study characterized the Bsk (bare skin) mutation in mice, which was linked to the Krt 1 locus on chromosome 11 and resulted in hair loss and corneal opacity. Researchers investigated whether the mutation involved a recombination between cornea-specific keratin 12 and hair-specific keratin genes (mHa 1, 2, 3, and 4). Through various analyses, including Northern hybridization, RT-PCR, and Western blot, it was found that these keratins were expressed in the skin but not in the cornea, and K12 was only expressed in the cornea. The study concluded that the Bsk mutation did not result from recombination between these keratin genes, and the gene responsible for the mutation remained unknown. The skin and corneal changes were likely secondary to hair and lash loss through an unidentified mechanism.