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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ttpatm1Far
targeted mutation 1, Bob Farese
MGI:1932559
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ttpatm1Far/Ttpatm1Far involves: 129S4/SvJae * C57BL/6 MGI:2174791
ht2
 		Ttpatm1Far/Ttpa+ involves: 129S4/SvJae * C57BL/6 MGI:2174792
cx3
 		Apoetm1Unc/Apoetm1Unc
Ttpatm1Far/Ttpatm1Far 		involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3653653
cx4
 		Apoetm1Unc/Apoetm1Unc
Ttpatm1Far/Ttpa+ 		involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 MGI:3653676


Genotype
MGI:2174791
hm1
Allelic
Composition		 Ttpatm1Far/Ttpatm1Far
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttpatm1Far mutation (1 available); any Ttpa mutation (23 available)
♀ 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




Genotype
MGI:2174792
ht2
Allelic
Composition		 Ttpatm1Far/Ttpa+
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttpatm1Far mutation (1 available); any Ttpa mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal vitamin E level ( J:66419 )
• chow-fed heterozygotes exhibit a ~50% reduction of alpha-tocopherol levels in plasma and most tissues

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
familial isolated deficiency of vitamin E DOID:0090028 OMIM:277460
 J:66419




Genotype
MGI:3653653
cx3
Allelic
Composition		 Apoetm1Unc/Apoetm1Unc
Ttpatm1Far/Ttpatm1Far
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apoetm1Unc mutation (33 available); any Apoe mutation (156 available)
Ttpatm1Far mutation (1 available); any Ttpa mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Morphology of aortic lesions in Apoetm1Unc/Apoetm1Unc and Apoetm1Unc/Apoetm1Unc Ttpatm1Far/Ttpatm1Far mice

homeostasis/metabolism
abnormal lipid homeostasis ( J:66419 )
• at 30 weeks of age, chow-fed double homozygous mutant females show no significant differences in total plasma cholesterol levels, HDL cholesterol levels or plasma ascorbate and urate levels relative to single Apoetm1Unc homozygotes
• however, double mutant females display a ~2-fold increase in total F2-isoprostane levels in the proximal and distal aorta, indicating that increased lipid peroxidation contributes to lesion development

cardiovascular system
atherosclerotic lesions ( J:66419 )
• at 30 weeks of age, chow-fed double homozygous mutant females exhibit a ~36% increase in total aortic lesion area relative to single Apoetm1Unc homozygotes
• specifically, double mutant females have 42% and 53% larger aortic lesions in the aortic arch and thorax region, respectively, relative to single Apoetm1Unc homozygotes; no differences in lesion size in the abdominal aorta are observed
• double mutant aortic root lesions exhibit more complex features, including a large necrotic core, numerous needle-shaped lucencies indicative of cholesterol crystals, and fibrous capping from smooth muscle cells




Genotype
MGI:3653676
cx4
Allelic
Composition		 Apoetm1Unc/Apoetm1Unc
Ttpatm1Far/Ttpa+
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apoetm1Unc mutation (33 available); any Apoe mutation (156 available)
Ttpatm1Far mutation (1 available); any Ttpa mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal vitamin E level ( J:66419 )
• chow-fed mice heterozygous for Ttpatm1Far and homozygous for Apoetm1Unc show a 24% reduction of plasma alpha-tocopherol levels relative to single Apoetm1Unc homozygotes

cardiovascular system
atherosclerotic lesions ( J:66419 )
• at 30 weeks of age, chow-fed female mice heterozygous for Ttpatm1Far and homozygous for Apoetm1Unc have 13% larger atherosclerotic lesions in the aortic arch region relative to single Apoetm1Unc homozygotes




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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory