Phenotypes Associated with This Genotype

Genotype
MGI:5781001

• Allelic Composition: Ptch1^tm1Yy/Ptch1⁺; Trp53^tm1Brd/Trp53⁺; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ

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

behavior/neurological

paralysis ( J:214349 )

• lower body paralysis due to spine tumors

neoplasm

increased metastatic potential ( J:214349 )

• occasionally, pulmonary metastasis is seen in the lungs

increased osteosarcoma incidence ( J:214349 )

• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance

• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull

• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma

• the majority of mutants develop only bone tumors

skeleton

increased osteosarcoma incidence ( J:214349 )

• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance

• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull

• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma

• the majority of mutants develop only bone tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteosarcoma		DOID:3347	OMIM:259500	J:214349