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Phenotypes Associated with This Genotype
Genotype
MGI:3040327
Allelic
Composition
Ptch1tm1Zim/Ptch1+
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Zim mutation (2 available); any Ptch1 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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)

mortality/aging
• 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
• 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)
• 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
• 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

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


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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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory