Phenotypes Associated with This Genotype

Genotype
MGI:4366442

• Allelic Composition: Fmr1^tm1Cgr/Y
• Genetic Background: involves: 129P2/OlaHsd

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

behavior/neurological

abnormal eye blink conditioning behavior ( J:101021 )

♂ • 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

abnormal spatial learning ( J:34449 )

♂ • in the reversal trials of the Morris water maze, mutants take more time to escape to the platform than controls

increased startle reflex ( J:101021 )

♂ • in all eye blink conditioning training session the percentage and peak amplitudes of the startle responses were higher

endocrine/exocrine glands

enlarged testis ( J:34449 )

♂ • 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

increased testis weight ( J:34449 )

♂

reproductive system

enlarged testis ( J:34449 )

♂ • 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

increased testis weight ( J:34449 )

♂

nervous system

abnormal Purkinje cell morphology ( J:101021 )

♂ • the percentage of single climbing fiber innervation is increased, the length of spine heads and necks is increased, and spines are more irregular

abnormal long-term depression ( J:101021 )

♂ • 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