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Phenotypes Associated with This Genotype
Genotype
MGI:3690366
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Mps mutation (2 available); any Ptch1 mutation (23 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 2/54 males develop testicular teratomas

reproductive system
• 2/54 males develop testicular teratomas

neoplasm
• 2/54 males develop testicular teratomas
• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)
• incidence is increased in frequency
• 50% develop tumors by 5 months of age, compared to ~15% of Ptch1-heterozygous, Ptch2-sufficient mice develop tumors by 12 months of age

cardiovascular system
• subcutaneous telangiectasia is observed in 2% of mice

digestive/alimentary system
• ~19% of mice display intestinal serosal angiectasis

muscle
• subcutaneous telangiectasia is observed in 2% of mice
• incidence is increased in frequency

integument
• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
medulloblastoma DOID:0050902 OMIM:155255
J:112118


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
10/08/2019
MGI 6.14
The Jackson Laboratory