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Phenotypes Associated with This Genotype
Genotype
MGI:2675737
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• low incidence in around 10% of mice (J:114992)
• 15-20% of mice develop medulloblastomas (J:144811)
• tumors consist of small round cells with little cytoplasm and clearly demarcated borders (J:144811)
• 100% of immunocompromised hosts receiving >200,000 tumor cells will develop medulloblastomas with a mean latency of 49 days (J:144811)
• tumor cells expressing CD15+ have the characteristics of cancer stem cells including high rates of proliferation and ability to propagate the disease into immunocompromised hosts (J:144811)

muscle
• low incidence in around 10% of mice

neoplasm
• mutants develop small tumor foci/buds in the skin; these epithelial invaginations arise from both the hair follicle and the interfollicular epithelium
• tumor buds appear at the first postnatal anagen stage
• low incidence in around 10% of mice
• low incidence in around 10% of mice (J:114992)
• 15-20% of mice develop medulloblastomas (J:144811)
• tumors consist of small round cells with little cytoplasm and clearly demarcated borders (J:144811)
• 100% of immunocompromised hosts receiving >200,000 tumor cells will develop medulloblastomas with a mean latency of 49 days (J:144811)
• tumor cells expressing CD15+ have the characteristics of cancer stem cells including high rates of proliferation and ability to propagate the disease into immunocompromised hosts (J:144811)

integument
• small foci of hair loss are observed, each one in association with epithelial invaginations
• mutants develop small tumor foci/buds in the skin; these epithelial invaginations arise from both the hair follicle and the interfollicular epithelium
• tumor buds appear at the first postnatal anagen stage

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
medulloblastoma DOID:0050902 OMIM:155255
J:144811


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
03/30/2021
MGI 6.16
The Jackson Laboratory