Phenotypes Associated with This Genotype

Genotype
MGI:4366351

• Allelic Composition: Fmr1^tm1Cgr/Y
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

increased exploration in new environment ( J:19220 )

♂ • mutants exhibit more exploratory behavior than controls, displaying more line crossings in the lit compartment

abnormal spatial learning ( J:19220 )

♂ • 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

abnormal anxiety-related response ( J:219363 )

♂ • increased transition between light and dark areas in a light-dark box assay

decreased startle reflex ( J:219363 )

♂

hyperactivity ( J:219363 )

♂

increased locomotor activity ( J:19220 )

♂ • mutants show significantly more crossings through three infrared beams in an empty cage over 40 min

increased thermal nociceptive threshold ( J:219363 )

♂

nervous system

abnormal dendritic spine morphology ( J:219363 )

♂ • hippocampal and cortical neurons exhibit increased density of think (immature) spines compared with wild-type neurons

abnormal retina rod cell outer segment morphology ( J:221083 )

♂ • density and linear organization of disks in the rod outer segment are altered

increased prepulse inhibition ( J:219363 )

♂

endocrine/exocrine glands

enlarged testis ( J:19220 )

♂ • macroorchidism develops over time

increased testis weight ( J:19220 )

♂ • weight of testis increases over time, however no structural abnormalities are observed

vision/eye

abnormal retina morphology ( J:221083 )

♂ • 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

abnormal retina rod cell outer segment morphology ( J:221083 )

♂ • density and linear organization of disks in the rod outer segment are altered

decreased a-wave amplitude ( J:221083 )

♂ • maximal a wave amplitude is decreased by 26%

♂ • however, a wave latency is not affected

decreased b-wave amplitude ( J:221083 )

♂ • maximal b wave amplitude is lower and there is an increase in the slope of the curve in its linear part

reproductive system

enlarged testis ( J:19220 )

♂ • macroorchidism develops over time

increased testis weight ( J:19220 )

♂ • 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