ABSTRACT

The name 'Beige mutation' represents the color of affected mice in the original description of the beige mutation which arose as a radiation-induced mutation. Beige is an autosomal recessive mutation that maps to Chromosome 13. A variety of immunological deficiencies or abnormalities associated with the granular defects are well known for the beige mutation. Beige mice have been reported to have a decreased life span when compared to a control group of mice. Because the beige mutation causes specific types of immunodeficiencies, it is not surprising that these mice are more susceptible to infectious diseases. This has been reported for a variety of spontaneous and experimental infections. Chediak-Higashi syndrome in human beings is essentially identical to the mutant phenotype of the beige mouse. Methodical study of the mouse mutation has been utilized to identify similar abnormalities in the human patients.