Phenotypes Associated with This Genotype

Genotype
MGI:3710324

• Allelic Composition: Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd; Ptch1^tm1Mps/Ptch1⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

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

nervous system

abnormal neuron differentiation ( J:102702 )

• granule neuronal precursors (GNPs) show enhanced proliferation after stimulation with Shh in culture relative to Ptch1 heterozygous, Cdkn2c wild-type cerebellar cells isolated at P10

increased medulloblastoma incidence ( J:102702 )

• mice exhibit earlier onset of tumor formation with greatly increased incidence compared to Ptch1 heterozygotes

neoplasm

increased medulloblastoma incidence ( J:102702 )

• mice exhibit earlier onset of tumor formation with greatly increased incidence compared to Ptch1 heterozygotes

cellular

abnormal neuron differentiation ( J:102702 )

• granule neuronal precursors (GNPs) show enhanced proliferation after stimulation with Shh in culture relative to Ptch1 heterozygous, Cdkn2c wild-type cerebellar cells isolated at P10

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:102702