Phenotypes Associated with This Genotype

Genotype
MGI:5825461

• Allelic Composition: Pten^tm2Mak/Pten^tm2Mak; Tg(Nes-cre/ERT2,-ALPP)1Sbk/0
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

premature death ( J:237990 )

• mice injected with tamoxifen at P0 and P1 have a median survival of 153 days

growth/size/body

megacephaly ( J:237990 )

• mice injected with tamoxifen at P0 and P1 begin to exhibit increasing macrocephaly at 2-3 months of age

behavior/neurological

lethargy ( J:237990 )

• mice injected with tamoxifen at P0 and P1 begin to exhibit lethargy at 2-3 months of age

ataxia ( J:237990 )

• mice injected with tamoxifen at P0 and P1 exhibit ataxia beginning at 2-3 months of age

seizures ( J:237990 )

• mice injected with tamoxifen at P0 and P1 exhibit seizures beginning at 2-3 months of age

nervous system

hydrocephaly ( J:237990 )

• brains of mice treated with tamoxifen at birth show hydrocephalus

increased brain size ( J:237990 )

• brains of mice treated with tamoxifen at birth show dramatic increase in overall size, especially the cerebellum

abnormal cerebellum morphology ( J:237990 )

• the perivascular hyperplastic lesions vary in size and are seen as early as 3 months of age, they grow surrounding CD34+ blood vessels and have a high percentage of Ki67+ cells

• organization of cell layers of the cerebellum are disrupted in mice treated with tamoxifen at birth

• cerebellum hypertrophy in mice treated with tamoxifen at birth

• cerebellum shows multiple perivascular proliferative niches in mice treated with tamoxifen at birth, composed of hyperchromatic cells with progenitor-like morphology

• lesions occur more frequently in anterior and lateral cerebellar lobules and in areas around the pia between lobules

abnormal cerebellar Purkinje cell layer ( J:237990 )

• Purkinje cells are not well aligned at the interface of the internal granule layer and molecular layer in mice treated with tamoxifen at birth

abnormal cerebellar granule cell morphology ( J:237990 )

• size of granule cells is larger in aging mice that were treated with tamoxifen at birth

ectopic cerebellar granule cells ( J:237990 )

• molecular layer is thickened with ectopic granule cells in mice treated with tamoxifen at birth

thin cerebellar granule layer ( J:237990 )

• the internal granule layer is thinner in mice treated with tamoxifen at birth

abnormal cerebellar molecular layer ( J:237990 )

• molecular layer is thickened with ectopic granule cells in mice treated with tamoxifen at birth

abnormal nervous system physiology ( J:237990 )

• mice injected with tamoxifen at P0 and P1 begin to exhibit progressive neurologic abnormalities at 2-3 months of age

seizures ( J:237990 )

• mice injected with tamoxifen at P0 and P1 exhibit seizures beginning at 2-3 months of age

neoplasm

neoplasm ( J:237990 )

N • perivascular hyperplastic lesions in the cerebellum persist but do not develop into tumors up to 10 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cowden syndrome		DOID:6457	OMIM:PS158350	J:237990