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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fmr1tm1Cgr
targeted mutation 1, Ben Oostra
MGI:1857169
Summary 20 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fmr1tm1Cgr/Fmr1tm1Cgr B6.129P2-Fmr1tm1Cgr MGI:4950026
hm2
Fmr1tm1Cgr/Fmr1tm1Cgr involves: 129P2/OlaHsd MGI:2665401
hm3
Fmr1tm1Cgr/Fmr1tm1Cgr involves: 129P2/OlaHsd * C57BL/6J MGI:2665400
cx4
Fmr1tm1Cgr/Fmr1tm1Cgr
Rgs4tm1Dgen/Rgs4tm1Dgen
B6.129P2-Rgs4tm1Dgen Fmr1tm1Cgr MGI:4950025
cx5
Fmr1tm1Cgr/Y
Tg(ACTB-Eif4e)#Ppp/0
involves: 129P2/OlaHsd * C57BL/6 MGI:5703659
cx6
Fmr1tm1Cgr/Y
Grm5tm1Rod/Grm5+
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:3767570
cx7
Cyfip2tm1(KOMP)Vlcg/Cyfip2+
Fmr1tm1Cgr/Y
involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac MGI:5774703
ot8
Fmr1tm1Cgr/Y B6.129P2-Fmr1tm1Cgr MGI:5640613
ot9
Fmr1tm1Cgr/Y B6.129P2-Fmr1tm1Cgr/J MGI:3815018
ot10
Fmr1tm1Cgr/Y B6.129P2-Fmr1tm1Cgr/Nwu MGI:5316396
ot11
Fmr1tm1Cgr/Y B6.129P2(FVB)-Fmr1tm1Cgr MGI:5303091
ot12
Fmr1tm1Cgr/Y either: FVB.129P2(B6)-Fmr1tm1Cgr/J or FVB;129P2(B6)-Fmr1tm1Cgr/J MGI:5316080
ot13
Fmr1tm1Cgr/Y FVB.129P2(B6)-Fmr1tm1Cgr/J MGI:5316043
ot14
Fmr1tm1Cgr/Y FVB.129P2(B6)-Pde6b+ Fmr1tm1Cgr MGI:5316077
ot15
Fmr1tm1Cgr/Y FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J MGI:5316389
ot16
Fmr1tm1Cgr/Y involves: 129P2/OlaHsd MGI:4366442
ot17
Fmr1tm1Cgr/Y involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:3767559
ot18
Fmr1tm1Cgr/Y involves: 129P2/OlaHsd * C57BL/6J MGI:4366351
ot19
Fmr1tm1Cgr/Y involves: 129P2/OlaHsd * FVB MGI:5303089
ot20
Fmr1tm1Cgr/Y involves: 129P2/OlaHsd * FVB/NJ MGI:5316399


Genotype
MGI:4950026
hm1
Allelic
Composition
Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic
Background
B6.129P2-Fmr1tm1Cgr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• Background Sensitivity: mice on the C57BL/6 background, but not the FVB/NJ background, location of hidden escape platform in water maze after 6 days of training
• for a scent-paired chamber
• mice exhibit reduced novel object recognition compared with wild-type mice
• mice exhibit less social dominance compared with wild-type mice

growth/size/body




Genotype
MGI:2665401
hm2
Allelic
Composition
Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in all eye blink conditioning training session the percentage and peak amplitudes of the startle responses were higher

nervous system
• 60.4% decrease in neuronal differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• 74.9% increase in astrocyte differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• exogenously expressed wild-type gene, but not mutant (I304N) rescues both the neuronal and the astrocyte differentiation deficits in homozygous mutant cells
• reduced (10.4% ) neuronal differentiation but greater (75.7%) glial differentiation in aNPCs residing in the DG compared with wild-type mice
• increased proliferation of isolated aNPCs from both the forebrain and DG of adult homozygous mice
• 11% more cells in mitotic (G2/M) phase compared with wild-type controls
• increased proliferation of both stem and progenitor cells in the DG and subventricular zone of mutant mice
• normal proliferation of astrocytes in the DG of mutant mice
• increased volume of the dentate gyrus (DG) in mutant mice
• the percentage of single climbing fiber innervation is increased, the length of spine heads and necks is increased, and spines are more irregular
• induction of long term depression in Purkinje cells is significantly enhanced when stimulating parallel fibers

cellular
• 60.4% decrease in neuronal differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• 74.9% increase in astrocyte differentiation compared with wild-type isolated adult neural progenitor/stem cells (aNPCs)
• exogenously expressed wild-type gene, but not mutant (I304N) rescues both the neuronal and the astrocyte differentiation deficits in homozygous mutant cells
• reduced (10.4% ) neuronal differentiation but greater (75.7%) glial differentiation in aNPCs residing in the DG compared with wild-type mice
• increased proliferation of isolated aNPCs from both the forebrain and DG of adult homozygous mice
• 11% more cells in mitotic (G2/M) phase compared with wild-type controls
• increased proliferation of both stem and progenitor cells in the DG and subventricular zone of mutant mice
• normal proliferation of astrocytes in the DG of mutant mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:101021




Genotype
MGI:2665400
hm3
Allelic
Composition
Fmr1tm1Cgr/Fmr1tm1Cgr
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants exhibit more exploratory behavior than controls, displaying more line crossings in the lit compartment
• mutants show significantly more crossings through three infrared beams in an empty cage over 40 min

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:19220




Genotype
MGI:4950025
cx4
Allelic
Composition
Fmr1tm1Cgr/Fmr1tm1Cgr
Rgs4tm1Dgen/Rgs4tm1Dgen
Genetic
Background
B6.129P2-Rgs4tm1Dgen Fmr1tm1Cgr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
Rgs4tm1Dgen mutation (1 available); any Rgs4 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system

behavior/neurological
N
• mice exhibit normal social dominance and conditioned place preference
• mice exhibit reduced novel object recognition compared with wild-type mice

growth/size/body
N
• mice exhibit normal weight

endocrine/exocrine glands




Genotype
MGI:5703659
cx5
Allelic
Composition
Fmr1tm1Cgr/Y
Tg(ACTB-Eif4e)#Ppp/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
Tg(ACTB-Eif4e)#Ppp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit impaired contextual fear memory, spending less time freezing in a context in which they received 2 tone-shock pairs
• however, mice show normal cued fear memory
• in the Morris water maze, mice show mildly impaired spatial learning and memory, showing fewer platform crossings during the training phase and on day 4 of the probe trial, but not on day 7
• mice exhibit anxiety-like behavior in the elevated plus maze, making fewer open arm entries and having a lower ratio of open arm entries to total arm entries
• in the novel object recognition task, mice do not exhibit a preference for the novel object over a familiar object as is seen in wild-type mice
• mice are hyperactive in the open field
• mice display stereotypic behavior in the marble burying task, burying more marbles and at a faster rate
• mice show deficits in social interaction, with mice showing no preference for the stranger mouse versus an inanimate object as seen in wild-type mice

nervous system
• mice exhibit higher levels of protein synthesis in the brain than wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:227667




Genotype
MGI:3767570
cx6
Allelic
Composition
Fmr1tm1Cgr/Y
Grm5tm1Rod/Grm5+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
Grm5tm1Rod mutation (2 available); any Grm5 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• latency to enter box following the inhibitory avoidance test is similar to wildtype, but significantly different from mice of the genotype Fmr1tm1Cgr/Y
• 33.3% of mice have a seizure in response to the test tone

nervous system
N
• visually evoked potentials are similar to wildtype control
• dendritic spine density is similar to wildtype control, but less than Fmr1tm1Cgr/Y mice
• 33.3% of mice have a seizure in response to the test tone

growth/size/body
N
• adult body weight is similar to wild-type, but less than Fmr1tm1Cgr/Y mice

endocrine/exocrine glands
• increase is only observed in adult (11-12 weeks)

reproductive system
• increase is only observed in adult (11-12 weeks)




Genotype
MGI:5774703
cx7
Allelic
Composition
Cyfip2tm1(KOMP)Vlcg/Cyfip2+
Fmr1tm1Cgr/Y
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyfip2tm1(KOMP)Vlcg mutation (0 available); any Cyfip2 mutation (38 available)
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• increased transition between light and dark areas in a light-dark box assay that is more so than in single mutants with more time spent in the light area
• aggravated compared with Fmr1tm1Cgr males

nervous system
• hippocampal neurons exhibit increased density of think (immature) spines compared with wild-type neurons to the same extent as in Fmr1tm1Cgr males
• cortical neurons exhibit increased density of think (immature) spines compared with wild-type neurons to the same a greater extent than in Fmr1tm1Cgr males




Genotype
MGI:5640613
ot8
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
B6.129P2-Fmr1tm1Cgr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• testes are significantly heavier than wild-type (J:119166)
(J:171292)

behavior/neurological
• mice exhibit less activity during the dark cycle but more bouts of activity during the light cycle compared with wild-type mice
• during the dark cycle, mice exhibit less daily water ingestion with decreased water ingested per lick compared with wild-type mice
• during the light cycle
• during the dark cycle

endocrine/exocrine glands
• testes are significantly heavier than wild-type (J:119166)
(J:171292)




Genotype
MGI:3815018
ot9
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
B6.129P2-Fmr1tm1Cgr/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• male mice exhibit enhanced performance in outcome devaluation and omission procedures following food-rewarded conditioning compared to wild-type mice
• in the Morris water maze, mice show mildly impaired spatial learning and memory, showing fewer platform crossings during the training phase and on day 4 of the probe trial but not on day 7
• at high intensities, the startle response magnitude is lower than in wild-type mice
• mice are hyperactive in the open field
• however, mice exhibit normal anxiety in the elevated plus maze, normal social preference, novel object recognition, and contextual fear conditioning
• mice display stereotypic behavior in the marble burying task, burying more marbles and at a faster rate

nervous system
• mice exhibit higher levels of protein synthesis in the brain
• male mice exhibit enhanced paired pulse inhibition compared to wild-type mice




Genotype
MGI:5316396
ot10
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
B6.129P2-Fmr1tm1Cgr/Nwu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• Background Sensitivity: levels of spontaneous alternation and entries into maze arms are increased on the FVB background as compared to the C57BL/6 background, however, exploration does not differ between mutant and wild-type
• Background Sensitivity: mice exhibit an increase in the number of vocalization and duration on FVB background as compared to the C57BL/6 background
• Background Sensitivity: mice on the C57BL/6 background, but not the FVB background, exhibit an increased tendency to attack a juvenile stimulus mouse
• mice do not preferentially explore the novelty stimulus mouse as compared to the familiar mouse in the social novelty preference test
• Background Sensitivity: mice spend more time self-grooming; the effect is more pronounced on the C57BL/6 background as compared to the FVB background
• startle response is less prominent with increased pulse intensity as compared to wild-type
• Background Sensitivity: mice on the C57BL/6 background exhibit stronger responses to 100 dBa pulse and lower responses to the 120 dBa pulse as compared to FVB
• overall locomotor activity is increased as compared to wild-type
• Background Sensitivity: mice on the FVB background are more active as compared to the C57BL/6 background
• mice do not preferentially explore the novelty stimulus mouse as compared to the familiar mouse in the social novelty preference test
• Background Sensitivity: mice spend less time in non-social activities; the effect is more pronounced on the FVB background as compared to C57BL/6
• Background Sensitivity: mice spend less time in affiliative behaviors; the effect is more pronounced on the C57BL/6 background as compared to FVB

nervous system
• Background Sensitivity: magnitude of prepulse inhibition is enhanced although the effect is more prominent on the C57BL/6 background as compared to the FVB background

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:171069




Genotype
MGI:5303091
ot11
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
B6.129P2(FVB)-Fmr1tm1Cgr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• Background Sensitivity: mice on the C57BL/6 background have longer latencies on the rotarod test than mice on the mixed FVB and 129P2 background, however, the difference between mutant and control on the C57BL/6 background is not significant
• Background Sensitivity: percentage of entries and percentage of time spent in arms of elevated plus maze is significantly decreased as compared to Fmr1tm1Cgr mice on the mixed FVB and 129P2 background, however, the difference between mutant and control on the C57BL/6 background is not significant
• mice spend more time in an empty cage than in a cage with a strange mouse in the sociability choice test in one of two cohorts




Genotype
MGI:5316080
ot12
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
either: FVB.129P2(B6)-Fmr1tm1Cgr/J or FVB;129P2(B6)-Fmr1tm1Cgr/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• loud (115 dB) sound results in seizures
• seizures begin within 20-30 seconds and are characterized by wild running, erratic leaping, clonic convulsions and progress to tonic hindlimb extension, respiratory arrest and death
• seizures are age dependent and are not fully penetrant
• no seizures occur before 10 weeks of age
• 57% of mice exhibit seizures between 10-12 weeks; 70% of mice exhibit seizures between 20-34 weeks of age

nervous system
• loud (115 dB) sound results in seizures
• seizures begin within 20-30 seconds and are characterized by wild running, erratic leaping, clonic convulsions and progress to tonic hindlimb extension, respiratory arrest and death
• seizures are age dependent and are not fully penetrant
• no seizures occur before 10 weeks of age
• 57% of mice exhibit seizures between 10-12 weeks; 70% of mice exhibit seizures between 20-34 weeks of age
• both a low (75 dB) and higher (85 dB) prepulse inhibits startle response more efficiently as compared to wild-type




Genotype
MGI:5316043
ot13
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
FVB.129P2(B6)-Fmr1tm1Cgr/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• startle response development is normal (at 118 dB) until 3-4 weeks of age, but does not increase as compared to controls




Genotype
MGI:5316077
ot14
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
FVB.129P2(B6)-Pde6b+ Fmr1tm1Cgr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit reduced freezing compared to controls following CS-US pairings in trace fear conditioning paradigm
• mice exhibit reduced average freezing within the intertrial intervals
• there are no significant differences in locomotor activity, nociceptive responses and anxiety-like behaviors between mutants and controls

nervous system
• synaptic potentiation is blocked in anterior cingulated cortex (ACC) and lateral amygdala (LA) as determined by whole cell patch-clamp recordings,
• however, short-term synaptic plasticity and basal synaptic transmission are normal

vision/eye
N
• mice are wild-type for Pde6b and therefore sighted




Genotype
MGI:5316389
ot15
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice do not explore the novelty stimulus mouse in the social novelty preference test
• Background Sensitivity: mice on the C57BL/6 background, but not the FVB background, exhibit an increased tendency to attack a juvenile stimulus mouse
• Background Sensitivity: levels of spontaneous alternation and entries into maze arms are increased on the FVB background as compared to the C57BL/6 background
• however, exploration does not differ between mutant and wild-type
• startle response is less prominent with increased pulse intensity as compared to wild-type
• Background Sensitivity: mice on the C57BL/6 background exhibit stronger responses to 100 dBa pulse and lower responses to the 120 dBa pulse as compared to FVB
• overall locomotor activity is increased as compared to wild-type
• Background Sensitivity: mice on the FVB background are more active as compared to mice on the C57BL/6 background
• mice do not explore the novelty stimulus mouse in the social novelty preference test
• Background Sensitivity: mice spend less time in non-social activities; the effect is more pronounced on the FVB background as compared to C57BL/6
• Background Sensitivity: mice spend less time in affiliative behaviors; the effect is more pronounced on the C57BL/6 background as compared to FVB
• Background Sensitivity: mice exhibit an increase in the number of vocalization and duration on FVB background as compared to the C57BL/6 background

nervous system
• Background Sensitivity: magnitude of prepulse inhibition is enhanced although the effect is more prominent on the C57BL/6 background as compared to the FVB background




Genotype
MGI:4366442
ot16
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• the percentage of conditioned responses was reduced in the 2nd - 4th training sessions and peak amplitude and peak velocity were reduced in the 3rd and 4th training sessions
• in the reversal trials of the Morris water maze, mutants take more time to escape to the platform than controls
• in all eye blink conditioning training session the percentage and peak amplitudes of the startle responses were higher

endocrine/exocrine glands
• progressive enlargement resulting in testes that were 34% bigger than those of wild-type by 168-170 days of age
• macroorchidism decreases somewhat after 168-170 days of age

reproductive system
• progressive enlargement resulting in testes that were 34% bigger than those of wild-type by 168-170 days of age
• macroorchidism decreases somewhat after 168-170 days of age

nervous system
• the percentage of single climbing fiber innervation is increased, the length of spine heads and necks is increased, and spines are more irregular
• induction of long term depression in Purkinje cells is significantly enhanced when stimulating parallel fibers

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:34449 , J:101021




Genotype
MGI:3767559
ot17
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit reduced latency to enter box 24 hours after initiation of inhibitory avoidance test as compared to wildtype (inhibitory avoidance extinction behavior)
• 72% of mice have a seizure in response to the test tone

nervous system
• 72% of mice have a seizure in response to the test tone
• dendritic spine density is increased in comparison to wildtype
• density of dendritic spines along apical dendrites of layer V pyramidal cells is increased
• dendritic spine length is increased
• mice have fewer short mushroom-shaped spines than wild-type
• elongated spines are more prevalent in mutant mice
• brief monocular deprivation results in substantial open-eye potentiation rather than the expected deprived-eye depression

growth/size/body
• 10% increase in body weight is observed by postnatal day 26, but is similar to wildtype by day 45

endocrine/exocrine glands
• increase in weight is only observed in adult (11-12 weeks)

reproductive system
• increase in weight is only observed in adult (11-12 weeks)




Genotype
MGI:4366351
ot18
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants exhibit more exploratory behavior than controls, displaying more line crossings in the lit compartment
• mutants do not seem to be impaired in the retrieval of spatial and nonspatial information in training and reversal trials once this information has been learned, but they are impaired in their acquisition of the reversal task
• increased transition between light and dark areas in a light-dark box assay
• mutants show significantly more crossings through three infrared beams in an empty cage over 40 min (J:19220)
(J:219363)

nervous system
• hippocampal and cortical neurons exhibit increased density of think (immature) spines compared with wild-type neurons
• density and linear organization of disks in the rod outer segment are altered

endocrine/exocrine glands
• macroorchidism develops over time
• weight of testis increases over time, however no structural abnormalities are observed

vision/eye
• the number of immature retinal neurons presenting exuberant and disorganized dendrites is increased
• rhodopsin content is decreased in the retina
• pre- and post-synaptic proteins are deregulated in the retina indicating synaptic alternations
• however, retinal layer thickness is normal
• density and linear organization of disks in the rod outer segment are altered
• maximal a wave amplitude is decreased by 26%
• however, a wave latency is not affected
• maximal b wave amplitude is lower and there is an increase in the slope of the curve in its linear part

reproductive system
• macroorchidism develops over time
• weight of testis increases over time, however no structural abnormalities are observed

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:19220 , J:221083




Genotype
MGI:5303089
ot19
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
involves: 129P2/OlaHsd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• distance traveled in open field test is increased as compared to control
• total number of entries in arms of elevated plus maze was significantly decreased as compared to littermate control in one of the two cohorts tested
• Background Sensitivity: percentage of entries and percentage of time spent in arms of elevated plus maze is significantly increased as compared to Fmr1tm1Cgr mice on the C57BL/6 background, however, the difference between mutant and control on the mixed FVB and 129P2 background is not significant
• distance traveled in open field test is increased as compared to control
• Background Sensitivity: mice on the C57BL/6 background have longer latencies on the rotarod test than mice on the mixed FVB and 129P2 background, however, the difference between mutant and control on the mixed FVB and 129P2 background is not significant
• mice spend more time in an empty cage than in a cage with a strange mouse in sociability choice test
• some mice exhibit bilateral motor seizures that range from head twitching to forelimb and hindlimb clonus, loss of postural control and tonic twisting of head and torso
• observed in some mice

growth/size/body
• body weight was significantly increased in one of the two cohorts tested

nervous system
• some mice exhibit bilateral motor seizures that range from head twitching to forelimb and hindlimb clonus, loss of postural control and tonic twisting of head and torso
• observed in some mice
• density of Timm granules (Timm staining identifies neural elements that contain heavy metals) in zinc-rich mossy fiber terminals is increased in inner molecular layer and close to the hilus in the stratum oriens

vision/eye
N
• mice are wild-type at the Pde6b locus and are therefore not blind (J:113177)
(J:151144)




Genotype
MGI:5316399
ot20
Allelic
Composition
Fmr1tm1Cgr/Y
Genetic
Background
involves: 129P2/OlaHsd * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1Cgr mutation (5 available); any Fmr1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice do not learn location of hidden escape platform in water maze after 6 days of training
• Background Sensitivity: in contrast, mice on the C57BL/6 background learned platform location and performed similar to wild-type

endocrine/exocrine glands
• testes are significantly heavier than wild-type

vision/eye
N
• mice have at least one wild-type allele of Pde6b and therefore lack vison impairments commonly seen in FVB mice

reproductive system
• testes are significantly heavier than wild-type





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
01/12/2022
MGI 6.17
The Jackson Laboratory