Phenotypes Associated with This Genotype

Genotype
MGI:5544755

• Allelic Composition: Cdkn1b^tm1Mlf/Cdkn1b^tm1Mlf; 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 114 days

neoplasm

increased tumor incidence ( J:205254 )

• 30% of mutants develop other tumors, including hemangiosarcomas, intestinal tumors, rhabdomyosarcomas, and lymphomas

• however, no pituitary tumors are seen

increased gastrointestinal tumor incidence ( J:205254 )

increased rhabdomyosarcoma incidence ( J:205254 )

increased lymphoma incidence ( J:205254 )

increased medulloblastoma incidence ( J:205254 )

• 66.7% of mutants develop medulloblastoma

• formation of medulloblastoma formation is accelerated compared to single Ptch1 heterozygotes or double heterozygotes

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes

increased hemangiosarcoma incidence ( J:205254 )

nervous system

increased medulloblastoma incidence ( J:205254 )

• 66.7% of mutants develop medulloblastoma

• formation of medulloblastoma formation is accelerated compared to single Ptch1 heterozygotes or double heterozygotes

• medulloblastomas are less differentiated and more invasive than medulloblastomas from single Ptch1 heterozygotes

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