Phenotypes Associated with This Genotype

Genotype
MGI:3759458

• Allelic Composition: Ptch1^tm1Mps/Ptch1⁺; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129 * 129S2/SvPas * C57BL/6

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

mortality/aging

premature death ( J:125534 )

• mice die around 2 months of age compared to Trp53^tm1Tyj that survive to 5 months

neoplasm

increased rhabdomyosarcoma incidence ( J:125534 )

• 3 of 16 mice develop rhabdomyosarcoma

increased medulloblastoma incidence ( J:125534 )

• 15 of 16 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

muscle

increased rhabdomyosarcoma incidence ( J:125534 )

• 3 of 16 mice develop rhabdomyosarcoma

nervous system

increased medulloblastoma incidence ( J:125534 )

• 15 of 16 mice develop medulloblastomas that express TUBB3 and GFAP and exhibit increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:67452