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Phenotypes Associated with This Genotype
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttpatm1Far mutation (1 available); any Ttpa mutation (7 available)
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
OMIM ID Ref(s)
Vitamin E, Familial Isolated Deficiency Of; VED 277460 J:66419

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory