Phenotypes Associated with This Genotype

Genotype
MGI:5286070

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: 129T2/SvEms * C57BL/6 * CBA

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

mortality/aging

premature death ( J:139573 )

• by 4 weeks, mice start becoming severely ill and must be sacrificed

• all mice die 10 or 11 weeks of age

nervous system

nervous system phenotype ( J:189258 )

N • neuronal migration to form the laminar architecture and foliation in the cerebellum are normal

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice

• however, cells are still able to exit the cell cycle

increased medulloblastoma incidence ( J:139573 )

abnormal cerebellum morphology ( J:139573 )

• some regions exhibit nodular structure unlike the discrete layers of cells in wild-type mice

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

• thickened at P1 to P8 and at P21

• the external granule cell layer persists at P21 unlike in wild-type mice

enlarged cerebellum ( J:139573 )

• at P21 with cerebellar hyperplasia

increased neuronal precursor cell number ( J:189258 )

• increased granule neuron precursors cells at P5

neoplasm

increased medulloblastoma incidence ( J:139573 )

cellular

abnormal neuronal precursor proliferation ( J:139573 )

• granule neuron precursors exhibit persistent proliferation unlike in wild-type mice

• however, cells are still able to exit the cell cycle

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