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Phenotypes Associated with This Genotype
Genotype
MGI:4361176
cn2
Allelic
Composition
Esr1tm1.2Mma/Esr1tm1.2Mma
Tg(Cyp17a1-icre)AJako/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Esr1tm1.2Mma mutation (0 available); any Esr1 mutation (68 available)
Tg(Cyp17a1-icre)AJako mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• following induction of superovulation with PMSG and hCG, the majority of mutant oocytes exhibit signs of degeneration

mortality/aging
• although mutant females display normal fertility and cycling at 2-3 months of age, they gradually lose fertility leading to near complete infertility by 6 months of age

reproductive system
• at 4 months of age, mutant females display signs of hemorrhagic ovarian cysts; however, hemorrhagic cysts are significantly fewer than those observed in Esr1tm1.1Mma females
• following injection of PMSG alone or PMSG+hCG, mutant ovaries develop multiple hemorrhagic follicles, rarely observed in wild-type ovaries
• following induction of superovulation with PMSG and hCG, the majority of mutant oocytes exhibit signs of degeneration
• at 4 months of age, mutant ovaries display interstitial hypertrophy
• at 4 months of age, mutant females display reduced numbers of corpora lutea relative to age-matched control females
• at 4 months of age, mutant females exhibit increased numbers of late preantral and early antral stage follicles
• following induction of superovulation with PMSG +hCG, most theca cells in mutant ovaries are abnormally located in interstitial areas, in contrast to wild-types ovaries where Cyp17-positive cells are mostly found in the theca interna of preovulatory follicles
• following induction of superovulation with PMSG +hCG injections, ovaries of 6-month-old mutant females are more heavily populated with theca (Cyp17-positive) cells than wild-type ovaries
• similarly, on the day of diestrus, ovaries of 4- and 10-month-old mutant females exhibit higher numbers of Cyp17-positive cells than wild-type ovaries
• at 4 months of age, unstimulated mutant females display signs of hemorrhagic ovarian cysts; however, hemorrhagic cysts are significantly fewer than those observed in Esr1tm1.1Mma females
• although mutant females display normal fertility and cycling at 2-3 months of age, they gradually lose fertility leading to near complete infertility by 6 months of age
• following induction of superovulation with PMSG and hCG, significantly fewer numbers of oocytes are retrieved from the oviducts of 6-mo-old mutant females than from age-matched wild-type control females (6 vs 22 oocytes, respectively)
• in contrast, only marginally smaller numbers of oocytes are retrieved at 2 months of age (20 vs 27 oocytes)
• at 4 months of age or later, all mutant females display an irregular pattern of estrous cycles relative to age-matched control littermates
• at 4- and 6 months of age, all mutant females exhibit a prolonged diestrous phase relative to age-matched control littermates
• female mutants become infertile before they reach 6 months of age

growth/size/body
• at 4 months of age, unstimulated mutant females display signs of hemorrhagic ovarian cysts; however, hemorrhagic cysts are significantly fewer than those observed in Esr1tm1.1Mma females

endocrine/exocrine glands
• at 4 months of age, mutant females display signs of hemorrhagic ovarian cysts; however, hemorrhagic cysts are significantly fewer than those observed in Esr1tm1.1Mma females
• following injection of PMSG alone or PMSG+hCG, mutant ovaries develop multiple hemorrhagic follicles, rarely observed in wild-type ovaries
• unexpectedly, at 4 months of age, mutant anterior pituitaries show a 2-fold increase in gonadotroph cell number relative to wild-type controls, with an approximately similar level of LH content in each cell
• at 4 months of age, mutant ovaries display interstitial hypertrophy
• at 4 months of age, mutant females display reduced numbers of corpora lutea relative to age-matched control females
• at 4 months of age, mutant females exhibit increased numbers of late preantral and early antral stage follicles
• following induction of superovulation with PMSG +hCG, most theca cells in mutant ovaries are abnormally located in interstitial areas, in contrast to wild-types ovaries where Cyp17-positive cells are mostly found in the theca interna of preovulatory follicles
• following induction of superovulation with PMSG +hCG injections, ovaries of 6-month-old mutant females are more heavily populated with theca (Cyp17-positive) cells than wild-type ovaries
• similarly, on the day of diestrus, ovaries of 4- and 10-month-old mutant females exhibit higher numbers of Cyp17-positive cells than wild-type ovaries
• at 4 months of age, unstimulated mutant females display signs of hemorrhagic ovarian cysts; however, hemorrhagic cysts are significantly fewer than those observed in Esr1tm1.1Mma females

homeostasis/metabolism
• at 2- and 6-months of age, mutant females exhibit moderately increased basal levels of serum testosterone relative to wild-type control females
• in contrast, no significant differences in serum FSH or estradiol levels are observed
• in mutant females, serum LH levels are either markedly lower (2 months) or undetectable (6 months) relative to those in age-matched wild-type controls

nervous system
• unexpectedly, at 4 months of age, mutant anterior pituitaries show a 2-fold increase in gonadotroph cell number relative to wild-type controls, with an approximately similar level of LH content in each cell

cardiovascular system
• at 4 months of age, mutant females display signs of hemorrhagic ovarian cysts; however, hemorrhagic cysts are significantly fewer than those observed in Esr1tm1.1Mma females
• following injection of PMSG alone or PMSG+hCG, mutant ovaries develop multiple hemorrhagic follicles, rarely observed in wild-type ovaries


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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory