LIPID DEFICIENCIES, LEUKOCYTOSIS, BRITTLE SKIN—A LETHAL SYNDROME CAUSED BY A RECESSIVE MUTATION, EDEMATOUS (OED), IN THE MOUSE

Michael B. Schiffman ¹, Maria L. Santorineou ¹, Susan E. Lewis ¹, Howard A. Turchin ¹, and Salome Gluecksohn-Waelsch ¹

¹ Departments of Genetics and Pediatrics, Albert Einstein College of Medicine, Bronx, N.Y. 10461

A new neonatal lethal mutation in the mouse with pleiotropic effects, edematous (oed), arose spontaneously in the phocomelic strain and has been shown to have an autosomal recessive mode of inheritance. The external phenotypic characteristics include a generally bloated appearance, shiny cellophane-like skin, and distal hematomata of the extremities. Internally, no gross or histological abnormalities could be identified, with the exception of a striking leukocytosis. Biochemical analysis revealed a severe disturbance of lipid metabolism. Deficiencies in the VLDL, LDL, and the HDL lipoprotein fractions have been found in the mutant plasma. In addition, all serum lipids are markedly decreased. However, in the mutant liver, only triglycerides are significantly decreased; total liver cholesterol and phospholipid values are within normal limits. The primary biochemical defect as well as the causal relationship between the striking abnormalities of lipid metabolism and those of skin and blood are unknown at this time.