Mouse Genome Informatics
involves: 129S4/SvJae * C57BL/6
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygotes are viable, healthy and show no obvious neurological abnormalities, such as ataxia, up to 18 months of age
• however, chow-fed homozygotes exhibit a >90% reduction of alpha-tocopherol levels in plasma and most tissues
• notably, in liver, adipose tissue, adrenal gland, and aorta, alpha-tocopherol levels are only 15-35% of wild-type levels

reproductive system
• female homozygotes are infertile whereas male homozygotes exhibit normal fertility
• vitamin E supplementation (1,000 units/kg of diet) completely reverses the fertility defect in female mutants

cardiovascular system
• normolipidemic homozygotes exhibit no spontaneous atherosclerosis; however, vitamin E deficiency appears to increase the severity of atherosclerotic lesions in a atherosclerosis-susceptible setting e.g. Apoe deficiency

Mouse Models of Human Disease
Vitamin E, Familial Isolated Deficiency Of; VED 277460 J:66419