Phenotypes Associated with This Genotype

Genotype
MGI:5140838

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

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:174327 )

• 10% of mutants exhibit spontaneous deaths before weaning; cause of death is unknown

nervous system

seizures ( J:174327 )

• some mutants exhibit seizures

abnormal Purkinje cell morphology ( J:174327 )

• Purkinje cells are larger than in wild-type mice

Purkinje cell degeneration ( J:174327 )

• mutants exhibit Purkinje cell loss beginning at one month of age which becomes progressively more pronounced over time

• by 7 months of age, mutants lose more Purkinje cells than Tsc2^tm1.1Mjg/Tsc2^tm1.1Mjg Tg(Pcp2-cre)2Mpin/0 mice

behavior/neurological

seizures ( J:174327 )

• some mutants exhibit seizures

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