ABSTRACT

A rare hemizygous brindled male that survived and was fertile demonstrated that brindled was an allele at the mottled locus (Mo). The mosaic (Moms) mutation arose spontaneously in an outbred stock. The dappled mutation arose in a low-dosage gamma-irradiation experiment. In general, mutations at the mottled locus have the following features: abnormal pigmentation, wavy vibrissae and sometimes wavy pelage hairs, skeletal abnormalities, tremors and incoordination, and defects of collagen and elastin fibers. The brindled mouse mutation is considered to be analogous to the human disease known by the eponym Menkes’ disease, or by the descriptive terms kinky-hair disease, tricholipodystrophy, X-chromosome-linked copper malabsorption. Fetal copper deficiency due to deficient diets occurs in lambs, goats, deer, pigs, and calves. The disease presents with neurological disease, depigmentation, and changes in hair. The principal use of the brindled mutation is as a model from Menkes’ disease of human beings.