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Phenotypes Associated with This Genotype
Genotype
MGI:5617140
Allelic
Composition
Fmr1tm1Usdn/Fmr1tm1Usdn
Genetic
Background
B6.129S6(Cg)-Fmr1tm1Usdn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Usdn mutation (0 available); any Fmr1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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
• 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
• 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
• 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
• 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

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
• 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
• cysts are larger in mutants and increase in size with age
• 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

cellular
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:196840


Contributing Projects:
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
01/24/2023
MGI 6.22
The Jackson Laboratory