Two fertile male tortoiseshell Burmese cats with atypical coat color distribution were found to have normal 38XY karyotypes. Synaptonemal complex analysis of one of these cats revealed normal meiotic pairing. Progeny data indicated that both cats were transmitting both alleles at the sex-linked orange locus, but with unequal frequencies. For one of these cats, analysis of pedigree and progeny data indicated that gene instability at the orange locus was the only possible explanation for its mosaicism. A third male tortoiseshell Burmese cat with typical tortoiseshell phenotype was found to be 39XXY and sterile.