Phenotypes Associated with This Genotype

Genotype
MGI:3690367

• Allelic Composition: Ptch1^tm1Mps/Ptch1⁺; Ptch2^tm1Pmc/Ptch2^tm1Pmc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

neoplasm

increased tumor incidence ( J:112118 )

• increased tumorigenesis is readily apparent in 6th-generation compound mutants

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

increased medulloblastoma incidence ( J:112118 )

• occur with higher frequency

decreased tumor latency ( J:112118 )

• 50% develop tumors by 10 months of age, compared to ~15% of Ptch1-heterozygous, Ptch2-sufficient mice develop tumors by 12 months of age

digestive/alimentary system

abnormal intestine morphology ( J:112118 )

• ~18% of mice display intestinal serosal angiectasis

integument

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)

nervous system

increased medulloblastoma incidence ( J:112118 )

• occur with higher frequency

muscle

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:112118