Phenotypes Associated with This Genotype

Genotype
MGI:3040327

• Allelic Composition: Ptch1^tm1Zim/Ptch1⁺
• Genetic Background: involves: 129 * CD-1

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

mortality/aging

increased mortality induced by ionizing radiation ( J:79666 )

• newborns irradiated with X-rays develop increased incidence of medulloblastoma and exhibit a higher mortality compared to irradiated wild-type mice or unirradiated heterozygotes, such that by 38 weeks of age, 33% of wild-type die versus 90% of mutants

• irradiated mutants die predominately from medulloblastomas while wild-type mice die from thymic lymphomas

neoplasm

increased medulloblastoma incidence ( J:79666 , J:165388 )

• spontaneous medulloblastoma incidence of 7.7% (J:79666)

• newborns, but not adults, show increased susceptibility to medulloblastoma formation following X-ray irradiation, with 74.5% incidence in mutants compared to 19.2% incidence in unirradiated mutants and 30.4% incidence in irradiated wild-type mice (J:79666)

• tumors show loss of the wild-type allele (J:79666)

• susceptibility of radiation-induced medulloblastoma development is increased in females that are ovariectomized compared to non-ovariectomized females (J:165388)

• estrogen replacement reduces this susceptibility back to levels seen in non-ovariectomized females (J:165388)

increased incidence of tumors by ionizing radiation induction ( J:79666 , J:165388 )

• newborns, but not adults, show increased susceptibility to medulloblastoma formation following X-ray irradiation, with 51% incidence compared to 7% in non-irradiated mutants (J:79666)

• susceptibility of radiation-induced medulloblastoma development is increased in females that are ovariectomized compared to non-ovariectomized females (J:165388)

homeostasis/metabolism

increased mortality induced by ionizing radiation ( J:79666 )

• newborns irradiated with X-rays develop increased incidence of medulloblastoma and exhibit a higher mortality compared to irradiated wild-type mice or unirradiated heterozygotes, such that by 38 weeks of age, 33% of wild-type die versus 90% of mutants

• irradiated mutants die predominately from medulloblastomas while wild-type mice die from thymic lymphomas

nervous system

increased medulloblastoma incidence ( J:79666 , J:165388 )

• spontaneous medulloblastoma incidence of 7.7% (J:79666)

• newborns, but not adults, show increased susceptibility to medulloblastoma formation following X-ray irradiation, with 74.5% incidence in mutants compared to 19.2% incidence in unirradiated mutants and 30.4% incidence in irradiated wild-type mice (J:79666)

• tumors show loss of the wild-type allele (J:79666)

• susceptibility of radiation-induced medulloblastoma development is increased in females that are ovariectomized compared to non-ovariectomized females (J:165388)

• estrogen replacement reduces this susceptibility back to levels seen in non-ovariectomized females (J:165388)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:79666