Phenotypes Associated with This Genotype

Genotype
MGI:5544754

• Allelic Composition: Cdkn1b^tm1Mlf/Cdkn1b⁺; Ptch1^tm1Mps/Ptch1⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:205254 )

• median survival of mutants that only develop medulloblastoma is 127 days

neoplasm

increased tumor incidence ( J:205254 )

• 11.8% 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 )

• 59.7% of mutants develop medulloblastoma

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes, sometimes penetrating the white matter and sometimes obliterating the normal contours of the cerebellar lobes

increased hemangiosarcoma incidence ( J:205254 )

nervous system

increased medulloblastoma incidence ( J:205254 )

• 59.7% of mutants develop medulloblastoma

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes, sometimes penetrating the white matter and sometimes obliterating the normal contours of the cerebellar lobes

hydrocephaly ( J:205254 )

• fraction of mutants develop hydrocephalus unrelated to tumor formation

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

muscle

increased rhabdomyosarcoma incidence ( J:205254 )

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:205254 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:205254