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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abca1tm2Jp
targeted mutation 2, John S Parks
MGI:3613250
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Abca1tm2Jp/Abca1tm2Jp
Tg(APOA1)427Bres/?
involves: 129X1/SvJ * C57BL/6J * CBA/J MGI:3614634
cx2
Abca1tm2Jp/Abca1+
Tg(APOA1)427Bres/?
involves: 129X1/SvJ * C57BL/6J * CBA/J MGI:3614635


Genotype
MGI:3614634
cx1
Allelic
Composition
Abca1tm2Jp/Abca1tm2Jp
Tg(APOA1)427Bres/?
Genetic
Background
involves: 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm2Jp mutation (1 available); any Abca1 mutation (43 available)
Tg(APOA1)427Bres mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• significantly reduced total plasma cholesterol
• significantly reduced free cholesterol
• significantly reduced levels of esterified cholesterol
• significantly reduced HDL cholesterol
• lower than in absence of transgene
• faster plasma HDL catabolism
• significantly reduced phospolipid levels
• human apoA-I not detectable in plasma

renal/urinary system
• two fold increase in HDL catabolism in the kidney

Mouse Models of Human Disease
OMIM ID Ref(s)
Tangier Disease; TGD 205400 J:104719




Genotype
MGI:3614635
cx2
Allelic
Composition
Abca1tm2Jp/Abca1+
Tg(APOA1)427Bres/?
Genetic
Background
involves: 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm2Jp mutation (1 available); any Abca1 mutation (43 available)
Tg(APOA1)427Bres mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• moderately reduced total plasma cholesterol
• moderately reduced free cholesterol
• 50% reduction of esterified cholesterol
• moderately reduced HDL cholesterol
• less reduction of phospolipid levels than expected
• less reduction of human apoA-I in plasma than expected

Mouse Models of Human Disease
OMIM ID Ref(s)
Tangier Disease; TGD 205400 J:104719





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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory