Phenotypes Associated with This Genotype

Genotype
MGI:2675737

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

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

neoplasm

increased skin tumor incidence ( J:82653 )

• mutants develop small tumor foci/buds in the skin; these epithelial invaginations arise from both the hair follicle and the interfollicular epithelium

• tumor buds appear at the first postnatal anagen stage

increased rhabdomyosarcoma incidence ( J:114992 )

• low incidence in around 10% of mice

increased medulloblastoma incidence ( J:102702 , J:114992 , J:144811 )

• low incidence in around 10% of mice (J:114992)

• 15-20% of mice develop medulloblastomas (J:144811)

• tumors consist of small round cells with little cytoplasm and clearly demarcated borders (J:144811)

• 100% of immunocompromised hosts receiving >200,000 tumor cells will develop medulloblastomas with a mean latency of 49 days (J:144811)

• tumor cells expressing CD15⁺ have the characteristics of cancer stem cells including high rates of proliferation and ability to propagate the disease into immunocompromised hosts (J:144811)

integument

focal hair loss ( J:82653 )

• small foci of hair loss are observed, each one in association with epithelial invaginations

increased skin tumor incidence ( J:82653 )

• mutants develop small tumor foci/buds in the skin; these epithelial invaginations arise from both the hair follicle and the interfollicular epithelium

• tumor buds appear at the first postnatal anagen stage

nervous system

increased medulloblastoma incidence ( J:102702 , J:114992 , J:144811 )

• low incidence in around 10% of mice (J:114992)

• 15-20% of mice develop medulloblastomas (J:144811)

• tumors consist of small round cells with little cytoplasm and clearly demarcated borders (J:144811)

• 100% of immunocompromised hosts receiving >200,000 tumor cells will develop medulloblastomas with a mean latency of 49 days (J:144811)

• tumor cells expressing CD15⁺ have the characteristics of cancer stem cells including high rates of proliferation and ability to propagate the disease into immunocompromised hosts (J:144811)

muscle

increased rhabdomyosarcoma incidence ( J:114992 )

• low incidence in around 10% of mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:144811