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Phenotypes Associated with This Genotype
Genotype
MGI:4366351
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 (4 available); any Fmr1 mutation (22 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
• mutants show significantly more crossings through three infrared beams in an empty cage over 40 min

nervous system
• 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
OMIM ID Ref(s)
Fragile X Mental Retardation Syndrome 300624 J:19220 , J:221083


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory