Phenotypes Associated with This Genotype

Genotype
MGI:2174791

• Allelic Composition: Ttpa^tm1Far/Ttpa^tm1Far
• Genetic Background: involves: 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal vitamin E level ( J:66419 )

• 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 infertility ( J:66419 )

♀ • 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

cardiovascular system phenotype ( J:66419 )

N • 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		DO ID	OMIM ID(s)	Ref(s)
familial isolated deficiency of vitamin E		DOID:0090028	OMIM:277460	J:66419