Phenotypes Associated with This Genotype

Genotype
MGI:2173417

• Allelic Composition: Ptch1^tm1Mps/Ptch1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:112118 )

• with increasing age (>12 months), Ptch1-heterozygous, Ptch2-sufficient mice are less healthy and die with no obvious tumor burden

decreased tumor-free survival time ( J:205254 )

• median survival of mutants that only develop medulloblastoma is 158 days

neoplasm

increased tumor incidence ( J:205254 )

• 14.3% of mutants develop other tumors, including hemangiosarcomas, intestinal tumors, rhabdomyosarcomas, and lymphomas

increased gastrointestinal tumor incidence ( J:205254 )

increased rhabdomyosarcoma incidence ( J:205254 )

increased lymphoma incidence ( J:205254 )

increased medulloblastoma incidence ( J:205254 )

• 42.8% of mutants develop medulloblastoma

• medulloblastomas are noninvasive and exhibit histologic patterns that mimic different phenotypes seen in human medulloblastoma, including classic biphasic phenotype and anaplastic variants

increased hemangiosarcoma incidence ( J:205254 )

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:205254 )

muscle

increased rhabdomyosarcoma incidence ( J:205254 )

nervous system

increased medulloblastoma incidence ( J:205254 )

• 42.8% of mutants develop medulloblastoma

• medulloblastomas are noninvasive and exhibit histologic patterns that mimic different phenotypes seen in human medulloblastoma, including classic biphasic phenotype and anaplastic variants

abnormal cerebellar molecular layer ( J:205254 )

• 1 month old cerebella show preneoplastic lesions in the outer molecular layer where progenitors within the external germinal layer previously resided, suggesting that medulloblastomas arise from granule neuron progenitors