Phenotypes Associated with This Genotype

Genotype
MGI:5286071

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(Atoh1-cre/Esr1*)14Fsh/0
• Genetic Background: involves: 129T2/SvEms * FVB/N

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

mortality/aging

premature death ( J:139573 )

• by 10 weeks, mice start becoming severely ill and must be sacrificed

• all mice die by 29 weeks of age

nervous system

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors in mice treated with tamoxifen at P4 exhibit increased proliferation unlike in wild-type mice

increased medulloblastoma incidence ( J:139573 )

• in all mice treated with tamoxifen at E14.5 with a median age of tumor onset at 10 weeks

• in all mice treated with tamoxifen at P4 with a median age of tumor onset at 13 weeks

• in all mice treated with tamoxifen at P8 with a median age of tumor onset at 15.5 weeks

• in 29% of mice treated with tamoxifen at P10 with a median age of tumor onset at 19 weeks

• however, mice treated with tamoxifen at E10.5, at P12, or later than P12 do not develop tumors

abnormal cerebellum external granule cell layer morphology ( J:139573 )

• at P21 in mice treated with tamoxifen at P4

enlarged cerebellum ( J:139573 )

• cerebellar hyperplasia at 10 weeks of age

neoplasm

increased medulloblastoma incidence ( J:139573 )

• in all mice treated with tamoxifen at E14.5 with a median age of tumor onset at 10 weeks

• in all mice treated with tamoxifen at P4 with a median age of tumor onset at 13 weeks

• in all mice treated with tamoxifen at P8 with a median age of tumor onset at 15.5 weeks

• in 29% of mice treated with tamoxifen at P10 with a median age of tumor onset at 19 weeks

• however, mice treated with tamoxifen at E10.5, at P12, or later than P12 do not develop tumors

cellular

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors in mice treated with tamoxifen at P4 exhibit increased proliferation unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:139573