Phenotypes Associated with This Genotype

Genotype
MGI:3848946

• Allelic Composition: Tg(Pcp2-FMR1*)1Dln/0
• Genetic Background: C57BL/6-Tg(Pcp2-Fmr1*)1Dln

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

behavior/neurological

impaired coordination ( J:149320 )

• compared to in mice expressing FMR1 without the 90 CGG repeats

nervous system

decreased Purkinje cell number ( J:149320 )

neuronal intranuclear inclusions ( J:149320 )

• Purkinje cells contain inclusions unlike in cells expressing FMR1 without the 90 CGG repeats

• Purkinje cell axons are swollen unlike in cells expressing FMR1 without the 90 CGG repeats

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fragile X-associated tremor/ataxia syndrome		DOID:0050879	OMIM:300623	J:149320