About   Help   FAQ
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 (9 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 (J:104719)
• significantly reduced free cholesterol (J:104719)
• significantly reduced levels of esterified cholesterol (J:104719)
• significantly reduced total plasma cholesterol (J:104719)
• significantly reduced free cholesterol (J:104719)
• significantly reduced levels of esterified cholesterol (J:104719)
• significantly reduced HDL cholesterol (J:104719)
• lower than in absence of transgene (J:104719)
• faster plasma HDL catabolism (J:104719)
• significantly reduced HDL cholesterol (J:104719)
• lower than in absence of transgene (J:104719)
• faster plasma HDL catabolism (J:104719)
• significantly reduced phospolipid levels (J:104719)
• significantly reduced phospolipid levels (J:104719)
• human apoA-I not detectable in plasma (J:104719)
• human apoA-I not detectable in plasma (J:104719)

renal/urinary system
• two fold increase in HDL catabolism in the kidney (J:104719)
• two fold increase in HDL catabolism in the kidney (J:104719)

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 (9 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 (J:104719)
• moderately reduced free cholesterol (J:104719)
• 50% reduction of esterified cholesterol (J:104719)
• moderately reduced total plasma cholesterol (J:104719)
• moderately reduced free cholesterol (J:104719)
• 50% reduction of esterified cholesterol (J:104719)
• moderately reduced HDL cholesterol (J:104719)
• moderately reduced HDL cholesterol (J:104719)
• less reduction of phospolipid levels than expected (J:104719)
• less reduction of phospolipid levels than expected (J:104719)
• less reduction of human apoA-I in plasma than expected (J:104719)
• less reduction of human apoA-I in plasma than expected (J:104719)

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory