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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abca1tm1Jdm
targeted mutation 1, John D McNeish
MGI:1935192
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abca1tm1Jdm/Abca1tm1Jdm DBA/1-Abca1tm1Jdm/J MGI:3796570
hm2
Abca1tm1Jdm/Abca1tm1Jdm DBA/1LacJ-Abca1tm1Jdm MGI:2450723
hm3
Abca1tm1Jdm/Abca1tm1Jdm involves: C57BL/6 * DBA/1LacJ MGI:3803112
hm4
Abca1tm1Jdm/Abca1tm1Jdm involves: DBA/1LacJ MGI:2687004
ht5
Abca1tm1Jdm/Abca1+ DBA/1LacJ-Abca1tm1Jdm MGI:2450724
cx6
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
involves: 129P2/OlaHsd * C57BL/6 * DBA * DBA/1LacJ MGI:5451013
cx7
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
Tg(APOA1)1Rub/0
involves: 129P2/OlaHsd * C57BL/6 * DBA * DBA/1LacJ MGI:5451014
cx8
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
Apoetm1Unc/Apoetm1Unc
involves: 129P2/OlaHsd * C57BL/6 * DBA * DBA/1LacJ MGI:5451015
cx9
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
involves: 129P2/OlaHsd * C57BL/6 * DBA/1LacJ MGI:3796569
cx10
Abca1tm1Jdm/Abca1tm1Jdm
Tgm2tm1Gml/Tgm2tm1Gml
involves: C57BL/6 * DBA/1LacJ MGI:3803113
cx11
Abca1tm1Jdm/Abca1tm1Jdm
Tg(Thy1-APP)3Somm/0
involves: C57BL/6J * DBA/1LacJ * DBA/2 MGI:4833954


Genotype
MGI:3796570
hm1
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Genetic
Background
DBA/1-Abca1tm1Jdm/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

homeostasis/metabolism




Genotype
MGI:2450723
hm2
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Genetic
Background
DBA/1LacJ-Abca1tm1Jdm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pulmonary lesions in Abca1tm1Jdm/Abca1tm1Jdm mice

mortality/aging
• incomplete penetrance
• at weaning, numbers of homozygotes recovered is reduced by about 50% from expected suggesting significant perinatal/postnatal lethality
• numbers of homozygous offspring recovered at weaning is significantly reduced from expected

cardiovascular system
• perivisceral

digestive/alimentary system
• more cholesterol absorbed, relative to wild-type, on both chow and Western diets

embryo

endocrine/exocrine glands

growth/size/body

hematopoietic system
• of apoptotic cells

homeostasis/metabolism
• low apolipoprotein A-I level, 99.8% reduction relative to wild-type on chow diet and undetectable on Western-type diet
• low apolipoprotein B level, 70% reduction relative to wild-type on chow diet
• more cholesterol absorbed, relative to wild-type, on both chow and Western diets
• ~70% reduction to wild-type on chow diet (J:61679)
• reduced relative to wild-type on Western-type diet (J:61679)
• 99.5% reduction relative to wild-type on chow diet (J:61679)
• undetectable on Western-type diet (J:61679)
• 70% reduction relative to wild-type on chow diet
• decreased levels of fat-soluble vitamins in plasma

immune system
• of apoptotic cells

reproductive system
• due to abnormal placental development

respiratory system
• macroscopic and microscopic pale foci in 5-10% of parenchyma in mice 7 months or older, increasingly prevalent with age
• foci consisted of type II pneumocytes, lipid-laden macrophages, and cholesterol clefts
• abnormal architecture; alveolar septae are focally expanded by mild type II pneumocyte hypertrophy, macrophages, and aggregates of lymphocytes and plasma cells
• lipid accumulation within alveolar cells

cellular
• of apoptotic cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Tangier disease DOID:1388 OMIM:205400
J:61679




Genotype
MGI:3803112
hm3
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Genetic
Background
involves: C57BL/6 * DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• numbers of homozygous offspring recovered at weaning is significantly reduced from expected

hematopoietic system
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice

immune system
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice

homeostasis/metabolism
N
• circulating triglyceride levels are normal in fasting mice
• levels are reduced compared to adult wild-type or Tgm2-null mice
• adult mice show nearly complete loss of HDL cholesterol in fasting mice

endocrine/exocrine glands
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice

cellular
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice




Genotype
MGI:2687004
hm4
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Genetic
Background
involves: DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• in culture, primary Sertoli cells isolated from 3-mo-old testes fail to show apoAI-dependent cholesterol efflux in the presence of LXR/RXR agonists, whereas wild-type cells show a 1.4-fold increase in apoAI-dependent cholesterol efflux
• strong reduction of plasma beta-sitosterol and campesterol levels
• intratesticular testosterone levels are significantly decreased by 6 months of age
• lack of circulating HDL suggests that steroidogenesis is supported by de novo synthesis of cholesterol
• mice have virtually no circulating HDL

reproductive system
• cauda epididymal sperm count is significantly reduced by 6 months of age
• males show age-dependent accumulation of lipids in the seminiferous tubules, whereas no lipid accumulations are observed in wild-type tubules up to 24 months of age
• accumulation of lipid droplets is seen near the base of the seminiferous epithelium at 7 months of age
• when large lipid droplets are present, a thickened tubule wall is observed
• abnormally large lipid droplets are present in the cytoplasm of Sertoli cells at 2 months of age, with significantly more extensive lipid deposition seen at 11- and 12 months of age
• when large lipid droplets are present, nuclear indentation may be observed
• inability to efflux lipids from Sertoli cells leads to variable amounts of tubule vacuolization and degeneration seen at 11 and 12 months of age
• at 2 months of age, Leydig cells are abnormally depleted of lipid droplets, show clumping of the smooth endoplasmic reticulum, and extensive invaginations of the nuclear membrane or increased chromatin condensation and margination
• males show a 21% reduction in their ability to sire offspring relative to age-matched wild-type controls over their reproductive lifespans

cellular
• cauda epididymal sperm count is significantly reduced by 6 months of age
• in culture, primary Sertoli cells isolated from 3-mo-old testes fail to show apoAI-dependent cholesterol efflux in the presence of LXR/RXR agonists, whereas wild-type cells show a 1.4-fold increase in apoAI-dependent cholesterol efflux

endocrine/exocrine glands
• males show age-dependent accumulation of lipids in the seminiferous tubules, whereas no lipid accumulations are observed in wild-type tubules up to 24 months of age
• accumulation of lipid droplets is seen near the base of the seminiferous epithelium at 7 months of age
• when large lipid droplets are present, a thickened tubule wall is observed
• abnormally large lipid droplets are present in the cytoplasm of Sertoli cells at 2 months of age, with significantly more extensive lipid deposition seen at 11- and 12 months of age
• when large lipid droplets are present, nuclear indentation may be observed
• inability to efflux lipids from Sertoli cells leads to variable amounts of tubule vacuolization and degeneration seen at 11 and 12 months of age
• at 2 months of age, Leydig cells are abnormally depleted of lipid droplets, show clumping of the smooth endoplasmic reticulum, and extensive invaginations of the nuclear membrane or increased chromatin condensation and margination




Genotype
MGI:2450724
ht5
Allelic
Composition
Abca1tm1Jdm/Abca1+
Genetic
Background
DBA/1LacJ-Abca1tm1Jdm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• low apolipoprotein A-I level, reduced relative to wild-type on chow and Western-type diets
• low apolipoprotein B level, 20% reduction on chow diet
• reduced relative to wild-type on chow and Western-type diets
• 20% reduction on chow diet

respiratory system
• microscopic, but not macroscopic, pale foci observed
• foci consisted of type II pneumocytes, lipid-laden macrophages, and cholesterol clefts




Genotype
MGI:5451013
cx6
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * DBA * DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
Abcg1tm1Dgen mutation (0 available); any Abcg1 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• mice exhibit a decrease in heterogeneous distribution of bone tissue material properties compared with wild-type mice
• from in vitro bone marrow cultures treated with G-CSF or IL3
• from in vitro bone marrow cultures treated with G-CSF
• from in vitro bone marrow cultures treated with IL3
• hematopoietic stem and multipotential progenitor cell (HSPC) mobilization is enhanced that is bone marrow- and G-CSF-dependent driven by increased IL23/IL17

skeleton

immune system
• from in vitro bone marrow cultures treated with G-CSF or IL3
• from in vitro bone marrow cultures treated with G-CSF
• from in vitro bone marrow cultures treated with IL3




Genotype
MGI:5451014
cx7
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
Tg(APOA1)1Rub/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * DBA * DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
Abcg1tm1Dgen mutation (0 available); any Abcg1 mutation (46 available)
Tg(APOA1)1Rub mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• in bone marrow transplants experiments, hematopoietic stem and multipotential progenitor cell (HSPC) exhibit reduced mobilization compared with Abca1tm1Jdm Abcg1tm1Dgen double homozygotes




Genotype
MGI:5451015
cx8
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
Apoetm1Unc/Apoetm1Unc
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * DBA * DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
Abcg1tm1Dgen mutation (0 available); any Abcg1 mutation (46 available)
Apoetm1Unc mutation (33 available); any Apoe mutation (158 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• mice fed a high fat diet exhibit increased hematopoietic stem and multipotential progenitor cell (HSPC) mobilization compared with wild-type mice
• however, treatment with recombinant HDL suppresses this increase




Genotype
MGI:3796569
cx9
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Abcg1tm1Dgen/Abcg1tm1Dgen
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
Abcg1tm1Dgen mutation (0 available); any Abcg1 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice exhibit increased secretion of TNF-alpha, IL-6, IL-1beta, and IL-12 compared to wild-type mice
• mice exhibit increased secretion of MIP-1alpha, MIP-2, growth-regulated oncogene alpha and MCP-1 compared to wild-type mice

cellular

homeostasis/metabolism




Genotype
MGI:3803113
cx10
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Tgm2tm1Gml/Tgm2tm1Gml
Genetic
Background
involves: C57BL/6 * DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
Tgm2tm1Gml mutation (3 available); any Tgm2 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

hematopoietic system
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice

immune system
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice

homeostasis/metabolism
N
• circulating triglyceride levels are normal in fasting mice
• levels are reduced compared to adult wild-type or Tgm2-null mice
• adult mice show nearly complete loss of HDL cholesterol in fasting mice

endocrine/exocrine glands
• massive thymic involution induced by dexamethasone treatment results in significant decrease in thymic weight and cellularity compared to wild-type, and similar to single null mice

cellular
• isolated peritoneal macrophages exposed to apoptotic thymocytes internalize similar numbers of cells (1-2 cells) as wild-type after 15-30 minutes, but this number does not increase with time as with wild-type which internalize 4-5 cells at 60-120 minutes
• after massive thymic involution induced by dexamethasone treatment, macrophages display reduced phagocytosis ability compared to wild-type, and similar to single-null mice




Genotype
MGI:4833954
cx11
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Tg(Thy1-APP)3Somm/0
Genetic
Background
involves: C57BL/6J * DBA/1LacJ * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (90 available)
Tg(Thy1-APP)3Somm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at weaning

nervous system
• mice exhibit more cerebral amyloid angiopathy-associated cerebral hemorrhage than Tg(Thy1-APP)3Somm mice
• at 13 months, mice exhibit more cerebral amyloid angiopathy than in Tg(Thy1-APP)3Somm mice

cardiovascular system
• mice exhibit more cerebral amyloid angiopathy-associated cerebral hemorrhage than Tg(Thy1-APP)3Somm mice

homeostasis/metabolism
• mice exhibit a 2-fold increase in insoluble beta-amyloid in the brain compared with Tg(Thy1-APP)3Somm mice
• at 13 months, mice exhibit more cerebral amyloid angiopathy than in Tg(Thy1-APP)3Somm mice





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory