Phenotypes for Ptch1 Trp53 MGI:3759458 MGI Mouse

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Phenotypes Associated with This Genotype

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1^tm1Mps mutation (2 available); any Ptch1 mutation (115 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (238 available)

♀	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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