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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
perinatal lethality, incomplete penetrance ( J:61679 )
• incomplete penetrance
• at weaning, numbers of homozygotes recovered is reduced by about 50% from expected suggesting significant perinatal/postnatal lethality
postnatal lethality, incomplete penetrance ( J:63265 )
• numbers of homozygous offspring recovered at weaning is significantly reduced from expected

cardiovascular system
hemorrhage ( J:63265 )
• perivisceral

digestive/alimentary system
increased intestinal cholesterol absorption ( J:61679 )
• more cholesterol absorbed, relative to wild-type, on both chow and Western diets

embryo

endocrine/exocrine glands

growth/size/body
decreased body weight ( J:60210 )
enlarged spleen ( J:60210 )

hematopoietic system
impaired macrophage phagocytosis ( J:63265 )
• of apoptotic cells

homeostasis/metabolism
abnormal lipid homeostasis ( J:61679 )
• 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
increased intestinal cholesterol absorption ( J:61679 )
• more cholesterol absorbed, relative to wild-type, on both chow and Western diets
decreased circulating cholesterol level ( J:60210 , J:61679 )
• ~70% reduction to wild-type on chow diet (J:61679)
• reduced relative to wild-type on Western-type diet (J:61679)
decreased circulating HDL cholesterol level ( J:60210 , J:61679 )
• 99.5% reduction relative to wild-type on chow diet (J:61679)
• undetectable on Western-type diet (J:61679)
decreased circulating LDL cholesterol level ( J:61679 )
• 70% reduction relative to wild-type on chow diet
abnormal fat-soluble vitamin level ( J:60210 )
• decreased levels of fat-soluble vitamins in plasma

immune system
impaired macrophage phagocytosis ( J:63265 )
• of apoptotic cells

reproductive system
female infertility ( J:63265 )
• due to abnormal placental development

respiratory system
abnormal lung morphology ( J:61679 )
• 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 pulmonary alveolus morphology ( J:61679 )
• 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
impaired macrophage phagocytosis ( J:63265 )
• 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
perinatal lethality, incomplete penetrance ( J:132254 )
• numbers of homozygous offspring recovered at weaning is significantly reduced from expected

hematopoietic system
impaired macrophage phagocytosis ( J:132254 )
• 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
abnormal thymus morphology ( J:132254 )
• 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
impaired macrophage phagocytosis ( J:132254 )
• 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
abnormal thymus morphology ( J:132254 )
• 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
homeostasis/metabolism phenotype ( J:132254 )
N
• circulating triglyceride levels are normal in fasting mice
decreased circulating cholesterol level ( J:132254 )
• levels are reduced compared to adult wild-type or Tgm2-null mice
decreased circulating HDL cholesterol level ( J:132254 )
• adult mice show nearly complete loss of HDL cholesterol in fasting mice

endocrine/exocrine glands
abnormal thymus morphology ( J:132254 )
• 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
impaired macrophage phagocytosis ( J:132254 )
• 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
decreased cholesterol efflux ( J:89906 )
• 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
decreased circulating phytosterol level ( J:87209 )
• strong reduction of plasma beta-sitosterol and campesterol levels
abnormal testosterone level ( J:89906 )
• intratesticular testosterone levels are significantly decreased by 6 months of age
abnormal cholesterol homeostasis ( J:89906 )
• lack of circulating HDL suggests that steroidogenesis is supported by de novo synthesis of cholesterol
decreased circulating HDL cholesterol level ( J:89906 )
• mice have virtually no circulating HDL

reproductive system
oligozoospermia ( J:89906 )
• cauda epididymal sperm count is significantly reduced by 6 months of age
abnormal seminiferous tubule morphology ( J:89906 )
• 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
abnormal seminiferous tubule epithelium morphology ( J:89906 )
• 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
abnormal Sertoli cell morphology ( J:89906 )
• 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
seminiferous tubule degeneration ( J:89906 )
• inability to efflux lipids from Sertoli cells leads to variable amounts of tubule vacuolization and degeneration seen at 11 and 12 months of age
abnormal Leydig cell morphology ( J:89906 )
• 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
reduced male fertility ( J:89906 )
• males show a 21% reduction in their ability to sire offspring relative to age-matched wild-type controls over their reproductive lifespans

cellular
oligozoospermia ( J:89906 )
• cauda epididymal sperm count is significantly reduced by 6 months of age
decreased cholesterol efflux ( J:89906 )
• 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
abnormal seminiferous tubule morphology ( J:89906 )
• 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
abnormal seminiferous tubule epithelium morphology ( J:89906 )
• 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
abnormal Sertoli cell morphology ( J:89906 )
• 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
seminiferous tubule degeneration ( J:89906 )
• inability to efflux lipids from Sertoli cells leads to variable amounts of tubule vacuolization and degeneration seen at 11 and 12 months of age
abnormal Leydig cell morphology ( J:89906 )
• 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
abnormal lipid homeostasis ( J:61679 )
• 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
decreased circulating HDL cholesterol level ( J:61679 )
• reduced relative to wild-type on chow and Western-type diets
decreased circulating LDL cholesterol level ( J:61679 )
• 20% reduction on chow diet

respiratory system
abnormal lung morphology ( J:61679 )
• 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
abnormal bone marrow cell morphology/development ( J:190966 )
• mice exhibit a decrease in heterogeneous distribution of bone tissue material properties compared with wild-type mice
increased neutrophil cell number ( J:190966 )
• from in vitro bone marrow cultures treated with G-CSF or IL3
decreased monocyte cell number ( J:190966 )
• from in vitro bone marrow cultures treated with G-CSF
increased monocyte cell number ( J:190966 )
• from in vitro bone marrow cultures treated with IL3
abnormal hematopoietic system physiology ( J:190966 )
• 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
increased neutrophil cell number ( J:190966 )
• from in vitro bone marrow cultures treated with G-CSF or IL3
decreased monocyte cell number ( J:190966 )
• from in vitro bone marrow cultures treated with G-CSF
increased monocyte cell number ( J:190966 )
• 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
abnormal hematopoietic system physiology ( J:190966 )
• 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
abnormal hematopoietic system physiology ( J:190966 )
• 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
abnormal cytokine secretion ( J:130777 )
• mice exhibit increased secretion of TNF-alpha, IL-6, IL-1beta, and IL-12 compared to wild-type mice
abnormal chemokine secretion ( J:130777 )
• 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
impaired macrophage phagocytosis ( J:132254 )
• 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
abnormal thymus morphology ( J:132254 )
• 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
impaired macrophage phagocytosis ( J:132254 )
• 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
abnormal thymus morphology ( J:132254 )
• 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
homeostasis/metabolism phenotype ( J:132254 )
N
• circulating triglyceride levels are normal in fasting mice
decreased circulating cholesterol level ( J:132254 )
• levels are reduced compared to adult wild-type or Tgm2-null mice
decreased circulating HDL cholesterol level ( J:132254 )
• adult mice show nearly complete loss of HDL cholesterol in fasting mice

endocrine/exocrine glands
abnormal thymus morphology ( J:132254 )
• 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
impaired macrophage phagocytosis ( J:132254 )
• 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
preweaning lethality, incomplete penetrance ( J:105902 )
• fewer than expected mice are present at weaning

nervous system
intracerebral hemorrhage ( J:105902 )
• mice exhibit more cerebral amyloid angiopathy-associated cerebral hemorrhage than Tg(Thy1-APP)3Somm mice
cerebral amyloid angiopathy ( J:105902 )
• at 13 months, mice exhibit more cerebral amyloid angiopathy than in Tg(Thy1-APP)3Somm mice

cardiovascular system
intracerebral hemorrhage ( J:105902 )
• mice exhibit more cerebral amyloid angiopathy-associated cerebral hemorrhage than Tg(Thy1-APP)3Somm mice

homeostasis/metabolism
amyloidosis ( J:105902 )
• mice exhibit a 2-fold increase in insoluble beta-amyloid in the brain compared with Tg(Thy1-APP)3Somm mice
cerebral amyloid angiopathy ( J:105902 )
• at 13 months, mice exhibit more cerebral amyloid angiopathy than in Tg(Thy1-APP)3Somm mice




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory