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Phenotypes Associated with This Genotype
Genotype
MGI:4358795
Allelic
Composition
Nr1h3tm1Djm/Nr1h3tm1Djm
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr1h3tm1Djm mutation (3 available); any Nr1h3 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• following superovulation protocols, ovary size is increased compared with ovaries from similarly treated wild-type mice
• however, estradiol-treated mice have normal sized ovaries
• superovulated-mice exhibit hemorrhagic cysts unlike similarly treated wild-type mice
• 3 months on a high cholesterol diet leads to a doubling in liver mass without increasing body weight

mortality/aging
• mice succumb to infection of Listeria monocytogenes 2-3 days earlier than controls

reproductive system
• apoptosis of germ cells within seminiferous tubules is more than double that of controls
• superovulated-mice rarely exhibit hemorrhage of the corpus luteum unlike similarly treated wild-type mice
• following superovulation protocols, ovary size is increased compared with ovaries from similarly treated wild-type mice
• however, estradiol-treated mice have normal sized ovaries
• superovulated-mice exhibit hemorrhagic cysts unlike similarly treated wild-type mice
• following follicle retrieval, a greater number of follicles are expulsed with 45% dead oocytes or empty zonae pellucidae unlike in similarly treated wild-type mice
• superovulated-mice rarely exhibit hemorrhage of the corpus luteum unlike similarly treated wild-type mice
• superovulated-mice exhibit increased follicle expulsion, increased number of dead oocytes or empty zona pellucida, enlarged ovaries, ovarian cysts, rare ovarian hemorrhage, increased ovarian vascular permeability, circulating estradiol, and inflammation compared with similarly treated wild-type mice

homeostasis/metabolism
N
• when fed Western diet
• circulating triglyceride level
• liver triglyceride level
• circulating free fatty acid level
• liver free fatty acid level
• circulating cholesterol level both total and free
• testosterone production in the testes is significantly reduced compared to controls
• superovulated-mice compared to in similarly treated wild-type
• plasma LH levels are almost half that of controls
• there is a 15- to 20- fold increase in liver cholesterol levels 7 days after being switched to a high (2%) cholesterol diet while only a modest increase is observed in control mice
• when fed an intermediate (0.2%) cholesterol diet, mice have increases of 3- and 10- fold after 7 and 22 days on the diet
• serum LDL levels are increased 5-fold in mice that are fed a high cholesterol diet
• serum alanine transaminase levels are increased in mice that are fed a high cholesterol diet
• serum aspartate transaminase levels are increased in mice that are fed a high cholesterol diet
• following superovulation protocols, mice exhibit an increase in blood sediment rate compared with wild-type mice indicating inflammation
• mice fail to increase their pool of bile acid in response to a high cholesterol diet as wild-type mice do
• less fecal excretion of bile acid occurs in mice fed the high cholesterol diet compared to control mice
• the ratio of cholic acid to muricholic acid within the bile acid pool is significantly higher than controls on a chow-fed diet, and does not decrease when fed a high cholesterol diet
• there is a 15- to 20- fold increase in liver cholesterol levels 7 days after being switched to a high (2%) cholesterol diet while only a modest increase is observed in control mice (J:47971)
• when fed an intermediate (0.2%) cholesterol diet, mice have increases of 3- and 10- fold after 7 and 22 days on the diet (J:47971)
• both total and free when fed Western diet (J:243753)

liver/biliary system
• 3 months on a high cholesterol diet leads to a doubling in liver mass without increasing body weight
• there is a 15- to 20- fold increase in liver cholesterol levels 7 days after being switched to a high (2%) cholesterol diet while only a modest increase is observed in control mice (J:47971)
• when fed an intermediate (0.2%) cholesterol diet, mice have increases of 3- and 10- fold after 7 and 22 days on the diet (J:47971)
• both total and free when fed Western diet (J:243753)
• on high (2%) cholesterol diets, livers develop fatty deposits that increase in number and size with time while control mice exhibit no abnormalities
• the liver appears pale and is double in size, inflammatory foci are developing, and signs of liver degeneration are evident after 3 months on the diet
• signs of liver degeneration are evident after 3 months on a high cholesterol diet
• increased serum levels of alanine and aspartate amino transferases are also indicitave of liver injury
• hepatocytes have lost most of their normal cell structure after 90 days on a high cholesterol diet
• liver appears white after 3 months on a high cholesterol diet due to presence of cholesterol filled droplets

cardiovascular system
• superovulated-mice rarely exhibit hemorrhage of the corpus luteum unlike similarly treated wild-type mice
• in the ovaries of superovulated-mice compared to in similarly treated wild-type

immune system
• following superovulation protocols, mice exhibit an increase in blood sediment rate compared with wild-type mice indicating inflammation
• mice succumb to infection of Listeria monocytogenes 2-3 days earlier than controls
• bacterial burden in the liver of day 2 of infection is 2 logs higher than controls

endocrine/exocrine glands
• superovulated-mice rarely exhibit hemorrhage of the corpus luteum unlike similarly treated wild-type mice
• following superovulation protocols, ovary size is increased compared with ovaries from similarly treated wild-type mice
• however, estradiol-treated mice have normal sized ovaries
• superovulated-mice exhibit hemorrhagic cysts unlike similarly treated wild-type mice
• following follicle retrieval, a greater number of follicles are expulsed with 45% dead oocytes or empty zonae pellucidae unlike in similarly treated wild-type mice
• superovulated-mice rarely exhibit hemorrhage of the corpus luteum unlike similarly treated wild-type mice

cellular
• apoptosis of germ cells within seminiferous tubules is more than double that of controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ovarian hyperstimulation syndrome DOID:5425 OMIM:608115
J:158168


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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
03/12/2024
MGI 6.23
The Jackson Laboratory