Phenotypes Associated with This Genotype

Genotype
MGI:5698924

• Allelic Composition: Tsc1^tm1Djk/Tsc1^tm1Djk; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor

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

Brains of Tsc1^tm1Djk/Tsc1^tm1Djk Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺ mice injected with an adenovirus expressing cre recombinase show ventricular region abnormalities

mortality/aging

premature death ( J:221022 )

• mice injected with a high dose of adenovirus expressing cre (AAVrh8-CBA-Cre) into each cerebral lateral ventricle on the day of birth exhibit a median survival of 38 days

• mice injected with a low dose of adenovirus expressing cre (AAVrh8-CBA-Cre) into each cerebral lateral ventricle on the day of birth exhibit a median survival of 180 days

• mice injected with a high dose of a different adenovirus expressing cre (AAV1-CBA-Cre) into each cerebral lateral ventricle on the day of birth exhibit a median survival of 66.5 days

growth/size/body

cachexia ( J:221022 )

• mice injected with the AAV1-CBA-Cre adenovirus exhibit signs of distress at 1-5 months of age, including hunched back, dehydration, and weight loss

nervous system

abnormal brain morphology ( J:221022 )

• brains exhibit a smoother surface in mice injected with the AAV1-CBA-Cre adenovirus

hydrocephaly ( J:221022 )

• severe hydrocephalus in 2 of 10 and mild hydrocephalus in 6 of 10 mice injected with AAV1-CBA-Cre

increased brain size ( J:221022 )

• brains appear enlarged and swollen in 30 day old mice injected with the high dose of adenovirus (AAVrh8-CBA-Cre or AAV1-CBA-Cre) expressing cre

abnormal brain ventricle morphology ( J:221022 )

• ventricular volume at P30 is about 4 times larger in mice injected with the AAV1-CBA-Cre adenovirus, while the brain tissue volume is about 6% larger

• 3 of 4 AAV1-CBA-Cre injected mice show nodules and thickening of the ventricular lining

enlarged lateral ventricles ( J:221022 )

• massively enlarged lateral ventricles in mice injected with AAV1-CBA-Cre, resulting from a constriction between the 3rd and lateral ventricles

abnormal postnatal subventricular zone morphology ( J:221022 )

• mice injected with AAV1-CBA-Cre develop hypertrophy of the subependymal layer, with expansion of the normal one cell thick layer into a convoluted layer with projections and isolated nodules

abnormal neuron morphology ( J:221022 )

• almost 2-fold increase in neuronal diameter near the periventricular area of 30 day old mice injected with the high dose of adenovirus expressing cre (AAVrh8-CBA-Cre or AAV1-CBA-Cre)

• some phospho-S6-positive Purkinje cells in the cerebellum and neurons in the caudate are enlarged in mice injected with AAV1-CBA-Cre

behavior/neurological

hunched posture ( J:221022 )

• mice injected with the high dose of adenovirus expressing cre (AAVrh8-CBA-Cre or AAV1-CBA-Cre) develop a hunched back

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:221022