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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fmr1tm1Usdn
targeted mutation 1, Karen Usdin
MGI:3711215
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fmr1tm1Usdn/Fmr1tm1Usdn B6.129S6(Cg)-Fmr1tm1Usdn MGI:5617140
ot2
Fmr1tm1Usdn/Y involves: 129S6/SvEvTac * C57BL/6 MGI:4950076
ot3
Fmr1tm1Usdn/Y involves: 129S6/SvEvTac * C57BL/6 * FVB MGI:3711530


Genotype
MGI:5617140
hm1
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 (28 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
• 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

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




Genotype
MGI:4950076
ot2
Allelic
Composition
Fmr1tm1Usdn/Y
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Usdn mutation (0 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in the passive avoidance test, the average latency of mutants to enter the dark compartment after a one-trial training session is 32% of the latency of wild-type mice
• in the open field, the number of center entries were higher in mutants than wild-type mice at all times points, consistent with hyperactivity and lower anxiety
• fraction of distance moved in the margins of the field is consistently lower in mutants than wild-type, indicating lower anxiety
• although times spent in the open and closed arms of the elevated plus maze were similar for mutants and wild-type mice, mutants make 34% more entries into the open arms than wild-type mice
• in the elevated zero maze, mutants on average spend 81% more time in the open quadrants than wild-type, indicating lower general anxiety
• mutants exhibit a higher total horizontal distance moved in the open field and a higher number of open entries in the elevated plus maze, indicating hyperactivity
• average numbers of entries into both chambers in the social novelty test is higher for mutants, again, indicating hyperactivity
• overall, mutants exhibit similar behavior as wild-type mice on the social interaction test, however mutants spend less time in the two side chambers and an increased amount of time in the center during social novelty compared with wild-type mice suggesting some social anxiety

endocrine/exocrine glands
• average testis weight is 15% higher than in wild-type

nervous system
• rates of cerebral protein synthesis are consistently higher in mutants than in wild-type mice by about 10-21%
• arborization is reduced in both apical and basal dendrites of layer III pyramidal neurons in medial prefrontal cortex
• overall arborization of apical dendrites of CA3 pyramidal cells of the dorsal hippocampus is reduced in mutants, but the shapes of the curves are similar; branching is reduced in the area between 100 and 175 um from the soma, but appears normal between 25 and 75 um and at 200 um from the soma
• branching on dendrites of pyramidal-like cells in the basal lateral amygdala is lower in mutants between 50 and 17 um form the soma
• branching on dendrites of stellate cells in the basal lateral amygdala is lower in mutants between 75 and 150 um from the soma
• in medial prefrontal cortex, spine densities are higher in mutants by 35 and 25% on apical and basal dendrites, respectively
• in CA3 pyramidal cells, spine densities are increased by 8 and 26% on apical and basal dendrites, respectively
• in basal lateral amygdala pyramidal-like cells, spine densities are increased by 48 and 41% on apical and basal dendrites, respectively
• in basal lateral amygdala stellate cells, spine densities are 18 and 25% higher on apical and basal dendrites, respectively
• in the medial prefrontal cortex, CA3 pyramidal cells and in the basal lateral amygdala, spines on both apical and basal dendrites are longer in mutants than in wild-type mice

reproductive system
• average testis weight is 15% higher than in wild-type

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:170720




Genotype
MGI:3711530
ot3
Allelic
Composition
Fmr1tm1Usdn/Y
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Usdn mutation (0 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 2-month old male mice show Purkinje pathologies including abnormal calbindin staining, swollen axons and torpedoes
• in 2 month-old male mice, Purkinje cell dropout is observed

cellular
• instability of knockin allele is high in mice with >120 5' UTR repeats, with repeat length expansions predominating upon transmission; instability is higher with paternal transmission than maternal transmission
• expansion frequency increases in males from 60% with 120 repeats to 82% in males with 190 repeats





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory