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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptch2tm1Pmc
targeted mutation 1, Peter J McKinnon
MGI:3665289
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptch2tm1Pmc/Ptch2tm1Pmc involves: 129S1/Sv * C57BL/6 MGI:3690364
cx2
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3690370
cx3
Ptch2tm1Pmc/Ptch2tm1Pmc
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:3690369
cx4
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3690366
cx5
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2tm1Pmc
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3690367


Genotype
MGI:3690364
hm1
Allelic
Composition
Ptch2tm1Pmc/Ptch2tm1Pmc
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mutants are viable and apparently normal; no differences are observed in cell proliferation or differentiation in the cerebellum




Genotype
MGI:3690370
cx2
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2+
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 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)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mice show no increase in tumor incidence compared to Ptch1/Trp53 double null mice




Genotype
MGI:3690369
cx3
Allelic
Composition
Ptch2tm1Pmc/Ptch2tm1Pmc
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (29 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (149 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• double mutants show similar tumor profile and latency as Trp53-null animals (11/20 develop thymoma and/or sarcoma by 4 months of age)




Genotype
MGI:3690366
cx4
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
reproductive system
• 2/54 males develop testicular teratomas

endocrine/exocrine glands
• 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




Genotype
MGI:3690367
cx5
Allelic
Composition
Ptch1tm1Mps/Ptch1+
Ptch2tm1Pmc/Ptch2tm1Pmc
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
muscle
• incidence is increased in frequency

nervous system
• occur with higher frequency

neoplasm
• increased tumorigenesis is readily apparent in 6th-generation compound mutants
• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)
• incidence is increased in frequency
• occur with higher frequency
• 50% develop tumors by 10 months of age, compared to ~15% of Ptch1-heterozygous, Ptch2-sufficient mice develop tumors by 12 months of age

digestive/alimentary system
• ~18% of mice display intestinal serosal angiectasis

integument
• frequency is greater (5/97) 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/09/2019
MGI 6.13
The Jackson Laboratory