LYSOSOME LIPID STORAGE DISORDER IN NCTR-BALB/C MICE .1. DESCRIPTION OF THE DISEASE AND GENETICS

  • 1 January 1982
    • journal article
    • research article
    • Vol. 108  (2) , 140-149
Abstract
A strain of BALB/c mice is described, designated NCTR-BALB/c, carrying a new genetic disorder characterized by excessive tissue deposition of cholesterol and phospholipid. The mice exhibit progressive incoordination, grow less rapidly, and die 80-120 days after birth. In comparison with control animals of the same age, organ weights in the affected animals are lower in absolute value but higher relative to body weight, except for the thymus, which is atrophied, and for the lung and testes, whose absolute weights are not changed. Vacuolated cells are found in many tissues, and large foam cells are present in reticuloendothelial system(RES)-rich organs. Compared with those of BALB/c controls, serum lipoproteins migrate more slowly on electrophoresis; the amount of .beta.-lipoproteins is increased, while .alpha.-lipoprotein content is decreased. Serum total cholesterol remains normal. The serum activities of aspartate aminotransferase, creatine phosphokinase and N-acetyl-.beta.-glucosaminidase are elevated. Free cholesterol levels are increased 8- to 10-fold in liver, spleen and thymus, and about 2-fold in other tissues; but esterified cholesterol levels are normal. The phospholipid content of several tissues is increased 50-100%, largely as a result of an increase in sphingomyelin content. Significant increases in phosphatidylcholine occur also in spleen and lung. The disorder is inherited, affecting both sexes equally, and appears to be transmitted as an autosomal recessive mutation.