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Allele Symbol Allele Name Allele ID |
Nr1h2tm1Djm targeted mutation 1, David J Mangelsdorf MGI:3041856 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the epidermis of mutant mice is thinner with fewer proliferating cells in the basal layer compared to wild-type littermates
• treatment with oxysterol does not result in thickening of the epidermis unlike in wild-type littermates and Nr1h3tm1Djm homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice succumb to infection of Listeria monocytogenes 2-3 days earlier than controls
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• occasionally mothers fail to expulse pups from uterine horns leading rarely to death
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• mice succumb to infection of Listeria monocytogenes 2-3 days earlier than controls
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• proliferation of male germ cells is significantly decreased compared to controls
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• Sertoli cells have vacuoles containing cholesterol esters
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• vacuoles filled with cholesterol esters are present within the myoctes
• concentration of cholesterol esters are about 25-fold higher at 3 and 12 months of age
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• occasionally mothers fail to expulse pups from uterine horns leading to hind-limb paralysis and rarely to death
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• myometrium muscle has lower amplitudes of contraction compared to controls in response to pharmacological levels of oxytocin
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• Sertoli cells have vacuoles containing cholesterol esters
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• occasionally mothers fail to expulse pups from uterine horns leading to hind-limb paralysis and rarely to death
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• myometrium (uterus) muscle has lower amplitudes of contraction compared to controls in response to pharmacological levels of oxytocin
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• proliferation of male germ cells is significantly decreased compared to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hepatic cholesterol levels are 4-fold higher than controls in mice fed a 0.2% cholesterol diet
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• hepatic cholesterol levels are 4-fold higher than controls in mice fed a 0.2% cholesterol diet
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between 60 and 90 days of age from neurodegenerative disease, which is significantly faster than Npc1 mutants on a wild-type background
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Niemann-Pick disease | DOID:14504 | J:130969 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a significant increase in cortical the Abeta1-40 plaque number is seen in mice at 32 weeks of age compared transgenic mice on a wild-type background
• plaques are also increased in size
• there is also a significant increase in Abeta1-42 plaque number at this age
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• a significant increase in cortical the Abeta1-40 plaque number is seen in mice at 32 weeks of age compared transgenic mice on a wild-type background
• plaques are also increased in size
• there is also a significant increase in Abeta1-42 plaque number at this age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all mice die when given 104 CFU of Listeria monocytogenes compared to all wild-type controls surviving
• at higher doses mice succumb to the infection 2-3 days earlier than controls
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• occasionally mothers fail to expulse pups from uterine horns leading rarely to death
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• proliferation of male germ cells is significantly decreased compared to controls
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• vacuoles filled with cholesterol esters are present within the myoctes
• concentration of cholesterol esters are 32-fold higher at 3 months of age and 66-fold higher at 12 months of age
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• 20-30% of 5.5 month old males have abnormal tubules with cellular aggregates clumping in the middle without any spermatozoa
• by 10 months of age, most tubules are empty without any spermatozoa
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• Sertoli cells have vacuoles filled with cholesterol esters within in them
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• by 12 months of age, seminiferous tubules are degraded from deposits cholesterol
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• Leydig cells in mice 3.5 months of age are enlarged
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• a significant decline in testis weight is noted starting at 9 weeks of age
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• as mice age, testis lose weight and morphology of the glands becomes becomes disrupted by cholesterol deposits
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• occasionally mothers fail to expulse pups from uterine horns leading to hind-limb paralysis and rarely to death
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• myometrium muscle has lower amplitudes of contraction compared to controls in response to pharmacological levels of oxytocin
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• apoptosis of germ cells within seminiferous tubules is more than double that of controls
• ratio of proliferating/apoptotic male germ cells is significantly decreased compared to controls
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• male mice start exhibiting fertility problems around 5 months of age with complete loss of fertility occurring by 7 months of age
• the fertility problems exhibited at 5 months of age include only 55% of mated females exhibiting vaginal plugs and dramatic reductions in litter size
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• testosterone production in the testes is significantly reduced compared to controls
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• plasma LH levels are almost half that of controls
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• occasionally mothers fail to expulse pups from uterine horns leading to hind-limb paralysis and rarely to death
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• peritoneal macrophages have a 2.7-fold increase in free cholesterol and a
2.4-fold increase in total cholesterol
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• all mice die when given 104 CFU of Listeria monocytogenes compared to all wild-type controls surviving
• at higher doses mice succumb to the infection 2-3 days earlier than controls
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• myometrium (uterus) muscle has lower amplitudes of contraction compared to controls in response to pharmacological levels of oxytocin
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• peritoneal macrophages have a 2.7-fold increase in free cholesterol and a
2.4-fold increase in total cholesterol
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• when bone marrow is transferred into irradiated Apoe-null mice, bone marrow cells fail to lower total serum cholesterol levels as wild-type bone marrow cells do
• aortas from these mice have 3- to 8-fold more atherosclerotic lesions than Apoe-null mice receiving wild-type bone marrow
• increased atherosclerotic lesions are also observed when mutant bone marrow is transferred into LDLR-null mice
• spleens of recipient LDLR-null mice are also enlarged
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• 20-30% of 5.5 month old males have abnormal tubules with cellular aggregates clumping in the middle without any spermatozoa
• by 10 months of age, most tubules are empty without any spermatozoa
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• Sertoli cells have vacuoles filled with cholesterol esters within in them
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• by 12 months of age, seminiferous tubules are degraded from deposits cholesterol
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• Leydig cells in mice 3.5 months of age are enlarged
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• a significant decline in testis weight is noted starting at 9 weeks of age
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• as mice age, testis lose weight and morphology of the glands becomes becomes disrupted by cholesterol deposits
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• apoptosis of germ cells within seminiferous tubules is more than double that of controls
• ratio of proliferating/apoptotic male germ cells is significantly decreased compared to controls
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• proliferation of male germ cells is significantly decreased compared to controls
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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