Phenotypes Associated with This Genotype

Genotype
MGI:4880715

• Allelic Composition: Tg(GFAP-cre)8Gtm/0; Tsc2^tm1.1Mjg/Tsc2^tm1.1Mjg
• Genetic Background: involves: 129X1/SvJ * 129S1/Sv * C57BL/6 * CBA

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

mortality/aging

premature death ( J:167241 )

• 50% mortality around 7 weeks of age and 100% mortality by 10 weeks

• live shorter than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• prolonged survival after rapamycin treatment

growth/size/body

slow postnatal weight gain ( J:167241 )

• poor weight gain

• improved weight gain after rapamycin treatment

nervous system

seizures ( J:167241 )

• seizures at around 2-3 weeks of life

• occasional seizures at 3 weeks of age, earlier onset than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• become progressively more frequent over the ensuing month

• have more seizures than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• fewer seizures after rapamycin treatment

increased brain size ( J:167241 )

• rapamycin decreases the megencephaly

• gross, generalized megencephaly

increased brain weight ( J:167241 )

• increased brain weight starting at 3 weeks of age

• become progressively more obvious with time

• more severe than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

abnormal hippocampus pyramidal cell morphology ( J:167241 )

• progressive neuronal disorganization in hippocampus with a dispersion of the pyramidal cell layer

• more severe than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• greater CA1 pyramidal cell layer width in hippocampus than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• rapamycin reduces the dispersion of the pyramidal cell layer in hippocampus

astrocytosis ( J:167241 )

• progressive increase in astrocyte number diffusely throughout the brain

• most obviously in neocortex and hippocampus

• detectable as early as 1 week of life, earlier onset than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• progressively more severe beyond 3 weeks of age

• more severe than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• rapamycin decreases the proliferation of astrocytes

behavior/neurological

seizures ( J:167241 )

• seizures at around 2-3 weeks of life

• occasional seizures at 3 weeks of age, earlier onset than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• become progressively more frequent over the ensuing month

• have more seizures than Tsc1^tm1Djk/Tsc1^tm1Djk Tg(GFAP-cre)8Gtm/0 mice

• fewer seizures after rapamycin treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:167241