Phenotypes Associated with This Genotype

Genotype
MGI:5140843

• Allelic Composition: Tg(Pcp2-cre)2Mpin/0; Tsc2^tm1.1Mjg/Tsc2^tm1.1Mjg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

ataxia ( J:174327 )

• mutants are ataxic at 3 months of age

• treatment of mutants with rapamycin rescues the ataxic gait

impaired coordination ( J:174327 )

• mutants exhibit rotarod defects, falling off the rotarod sooner than controls

abnormal gait ( J:174327 )

• mutants take wider steps than control mice

nervous system

abnormal Purkinje cell morphology ( J:174327 )

• Purkinje cells exhibit apoptotic cell death and increased ER and oxidative stress

• treatment of mutants with rapamycin rescues Purkinje cell death and alleviates ER stress

Purkinje cell degeneration ( J:174327 )

• mutants progressively lose Purkinje cells beginning at one month of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:174327