growth/size/body
ovary cyst
(
J:196840
)
• mutants with about 130 repeats exhibit twice the incidence of serous ovarian cysts as wild-type mice (67% vs. 29%)
• mutants have multiple cysts per ovary unlike wild-type mice that have no more than one cyst per ovary
• cysts are larger in mutants and increase in size with age
|
reproductive system
• 4 month old mutants with around 130 repeats have twice the number of oocytes in antral follicles in advanced meiosis than do wild-type mice indicating premature loss of prophase I arrest
|
• mice with around 130 repeats show an increase in the ovarian interstitium with age
• interstitial hypertrophy is rare in young mice but 52.4% of 8-12 month old mutants show increases in interstitial cells often with macrophage infiltration compared to 28.8% of wild-type mice
• interstitial expansion is accompanied by tubulostromal hyperplasia in 21% of mutants
|
• mutants with around 130 repeats exhibit reduced corpora lutea numbers in the absence of altered corpora lutea /advanced follicle ratios
|
• follicles from mutants with around 130 repeats show granulosa cell abnormalities
• antral follicles have 15% fewer granulosa cells than wild-type mice
|
• 67% of eggs detected in the fallopian tubes of mutants with around 130 repeats or uterus lack a cumulus cloud compared to 6% of wild-type mice
|
• mice with around 130 CGG-CCG repeats in the 5' UTR have an initial normal primordial follicle pool, however they exhibit a more rapid decline in follicle number with age (after 4 months of age) than wild-type mice indicating increased rate of follicle depletion
• mutants show a reduction in follicle numbers earlier than do wild-type mice for all subclasses of follicles
|
• many advanced follicles show signs of being atretic and mutants show a high ratio of atretic follicles to advancing follicles irrespective of where they are in the estrus cycle
|
• cross-sectional areas of antral follicles of 4 month old mutants with around 130 repeats are 12% smaller than in wild-type mice
• antral follicles have 15% fewer granulosa cells than wild-type mice
• mutants have more antral follicles in which the corona, the granulosa-derived cells that surround the oocyte in more mature follicles, is partial or missing
• 6 week old mutants with a repeat number of 325-375 show twice as many atretic follicles as mice with 270-300 repeats at 6 weeks of age
|
small ovary
(
J:196840
)
• ovaries of mutants with around 130 repeats are on average 15% smaller at 4 months of age
• however, ovarian volume does not change over the 4- to 12-month period while it declines with age in wild-type mice
|
• seen in 12 month old mutants with around 130 repeats
|
ovary cyst
(
J:196840
)
• mutants with about 130 repeats exhibit twice the incidence of serous ovarian cysts as wild-type mice (67% vs. 29%)
• mutants have multiple cysts per ovary unlike wild-type mice that have no more than one cyst per ovary
• cysts are larger in mutants and increase in size with age
|
endocrine/exocrine glands
• mice with around 130 repeats show an increase in the ovarian interstitium with age
• interstitial hypertrophy is rare in young mice but 52.4% of 8-12 month old mutants show increases in interstitial cells often with macrophage infiltration compared to 28.8% of wild-type mice
• interstitial expansion is accompanied by tubulostromal hyperplasia in 21% of mutants
|
• mutants with around 130 repeats exhibit reduced corpora lutea numbers in the absence of altered corpora lutea /advanced follicle ratios
|
• follicles from mutants with around 130 repeats show granulosa cell abnormalities
• antral follicles have 15% fewer granulosa cells than wild-type mice
|
• 67% of eggs detected in the fallopian tubes of mutants with around 130 repeats or uterus lack a cumulus cloud compared to 6% of wild-type mice
|
• mice with around 130 CGG-CCG repeats in the 5' UTR have an initial normal primordial follicle pool, however they exhibit a more rapid decline in follicle number with age (after 4 months of age) than wild-type mice indicating increased rate of follicle depletion
• mutants show a reduction in follicle numbers earlier than do wild-type mice for all subclasses of follicles
|
• many advanced follicles show signs of being atretic and mutants show a high ratio of atretic follicles to advancing follicles irrespective of where they are in the estrus cycle
|
• cross-sectional areas of antral follicles of 4 month old mutants with around 130 repeats are 12% smaller than in wild-type mice
• antral follicles have 15% fewer granulosa cells than wild-type mice
• mutants have more antral follicles in which the corona, the granulosa-derived cells that surround the oocyte in more mature follicles, is partial or missing
• 6 week old mutants with a repeat number of 325-375 show twice as many atretic follicles as mice with 270-300 repeats at 6 weeks of age
|
small ovary
(
J:196840
)
• ovaries of mutants with around 130 repeats are on average 15% smaller at 4 months of age
• however, ovarian volume does not change over the 4- to 12-month period while it declines with age in wild-type mice
|
• seen in 12 month old mutants with around 130 repeats
|
ovary cyst
(
J:196840
)
• mutants with about 130 repeats exhibit twice the incidence of serous ovarian cysts as wild-type mice (67% vs. 29%)
• mutants have multiple cysts per ovary unlike wild-type mice that have no more than one cyst per ovary
• cysts are larger in mutants and increase in size with age
|
cellular
• 4 month old mutants with around 130 repeats have twice the number of oocytes in antral follicles in advanced meiosis than do wild-type mice indicating premature loss of prophase I arrest
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
fragile X syndrome | DOID:14261 |
OMIM:300624 |
J:196840 |