Phenotypes Associated with This Genotype

Genotype
MGI:3690366

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

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

neoplasm

increased testicular teratoma incidence ( J:112118 )

♂ • 2/54 males develop testicular teratomas

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

decreased tumor latency ( J:112118 )

• 50% develop tumors by 5 months of age, compared to ~15% of Ptch1-heterozygous, Ptch2-sufficient mice develop tumors by 12 months of age

cardiovascular system

telangiectasia ( J:112118 )

• subcutaneous telangiectasia is observed in 2% of mice

digestive/alimentary system

abnormal intestine morphology ( J:112118 )

• ~19% of mice display intestinal serosal angiectasis

muscle

telangiectasia ( J:112118 )

• subcutaneous telangiectasia is observed in 2% of mice

increased rhabdomyosarcoma incidence ( J:112118 )

• incidence is increased in frequency

integument

increased basal cell carcinoma incidence ( J:112118 )

• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)

endocrine/exocrine glands

increased testicular teratoma incidence ( J:112118 )

♂ • 2/54 males develop testicular teratomas

reproductive system

increased testicular teratoma incidence ( J:112118 )

♂ • 2/54 males develop testicular teratomas

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