Mouse Genome Informatics
cn1
    Abca1tm1Jp/Abca1tm1Jp
Abcg1tm1Tall/Abcg1tm1Tall
Lyz2tm1(cre)Ifo/Lyz2+

involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• mice exhibit an increase in colony-forming units in the blood

immune system
• 1.5-fold in the spleen


Mouse Genome Informatics
cn2
    Abca1tm1Jp/Abca1tm1Jp
Tg(Alb-cre)21Mgn/0

involves: 129S6/SvEvTac * B6.Cg-Tg(Alb-cre)21Mgn/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• 70-90% reduction in plasma phospholipid level
• 2-fold higher catabolism of HDL apoA-I from wildtype mice or human lipid-free ApoA-I than in wildtype, due to a 2-fold increase in the catabolism of apoA-I by the kidney, with no change in liver catabolism
• total plasma cholesterol levels were 80% lower than in wildtype
• 70-90% reduction in plasma free cholesterol and esterified cholesterol
• 80% lower than in wildtype

Mouse Models of Human Disease
OMIM IDRef(s)
Tangier Disease; TGD 205400 J:98093


Mouse Genome Informatics
cn3
    Abca1tm1Jp/Abca1+
Tg(Alb-cre)21Mgn/0

involves: 129S6/SvEvTac * B6.Cg-Tg(Alb-cre)21Mgn/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• decreased (70-90%) phospholipid levels
• slightly higher catabolism of HDL apoA-I from wildtype mice or human lipid-free ApoA-I than in wildtype, due to an increase in the catabolism of apoA-I by the kidney, with no change in liver catabolism
• decreased levels of total plasma cholesterol, free cholesterol, and esterified cholesterol


Mouse Genome Informatics
cn4
    Abca1tm1Jp/Abca1tm1Jp
Abcg1tm1Tall/Abcg1tm1Tall
Tg(Itgax-cre,-EGFP)4097Ach/0

involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• mice exhibit an increase in colony-forming units in the blood

immune system
• 1.8-fold in the spleen


Mouse Genome Informatics
cn5
    Abca1tm1Jp/Abca1tm1Jp
Tg(Alb-cre)21Mgn/0

involves: 129S6/SvEvTac * C57BL/6 * DBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• HDL levels are reduced by 80%


Mouse Genome Informatics
cn6
    Abca1tm1Jp/Abca1tm1Jp
Tg(Alb-cre)21Mgn/0
Tg(Vil-cre)997Gum/0

involves: 129S6/SvEvTac * C57BL/6 * DBA * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• plasma HDL levels are reduced by 90%


Mouse Genome Informatics
cn7
    Abca1tm1Jp/Abca1tm1Jp
Tg(Vil-cre)997Gum/0

involves: 129S6/SvEvTac * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• enterocytes have decreased efflux of cholesterol in vitro
• in vivo, uptake of cholesterol in the gut is unaffected by cholesterol fails to get transported to the circulatory system

digestive/alimentary system
• cholesterol uptaken from the lumen of the gut is retained in the enterocytes instead of being transported to the blood

homeostasis/metabolism
• enterocytes have decreased efflux of cholesterol in vitro
• in vivo, uptake of cholesterol in the gut is unaffected by cholesterol fails to get transported to the circulatory system
• total cholesterol levels are reduced
• fasting plasma HDL levels are reduced about 30%
• serum levels of Apo-AI, Apo-AII and ApoB are also reduced by about 25-35%
• serum levels of Apo-AI, Apo-AII and ApoB are also reduced by about 25-35%


Mouse Genome Informatics
cn8
    Abca1tm1Jp/Abca1+
Tg(Vil-cre)997Gum/0

involves: 129S6/SvEvTac * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• total cholesterol levels are reduced due to decreases in HDL
• fasting plasma HDL levels are reduced about 15%