About   Help   FAQ
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 (29 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
• 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
• 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

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
• 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


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory