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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 (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:112118 )
• 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 (115 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (47 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
neoplasm ( J:112118 )
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 (47 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
neoplasm ( J:112118 )
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 (115 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased testicular teratoma incidence ( J:112118 )
• 2/54 males develop testicular teratomas
increased basal cell carcinoma incidence ( J:112118 )
• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)
increased rhabdomyosarcoma incidence ( J:112118 )
• incidence is increased in frequency
decreased tumor latency ( J:112118 )
• 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
telangiectasia ( J:112118 )
• subcutaneous telangiectasia is observed in 2% of mice

digestive/alimentary system
abnormal intestine morphology ( J:112118 )
• ~19% of mice display intestinal serosal angiectasis

muscle
telangiectasia ( J:112118 )
• subcutaneous telangiectasia is observed in 2% of mice
increased rhabdomyosarcoma incidence ( J:112118 )
• incidence is increased in frequency

integument
increased basal cell carcinoma incidence ( J:112118 )
• frequency is greater (3/63) compared to Ptch1-deficient mice (1/62)

endocrine/exocrine glands
increased testicular teratoma incidence ( J:112118 )
• 2/54 males develop testicular teratomas

reproductive system
increased testicular teratoma incidence ( J:112118 )
• 2/54 males develop testicular teratomas

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 (115 available)
Ptch2tm1Pmc mutation (0 available); any Ptch2 mutation (47 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased tumor incidence ( J:112118 )
• increased tumorigenesis is readily apparent in 6th-generation compound mutants
increased basal cell carcinoma incidence ( J:112118 )
• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)
increased rhabdomyosarcoma incidence ( J:112118 )
• incidence is increased in frequency
increased medulloblastoma incidence ( J:112118 )
• occur with higher frequency
decreased tumor latency ( J:112118 )
• 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
abnormal intestine morphology ( J:112118 )
• ~18% of mice display intestinal serosal angiectasis

integument
increased basal cell carcinoma incidence ( J:112118 )
• frequency is greater (5/97) compared to Ptch1-deficient mice (1/62)

nervous system
increased medulloblastoma incidence ( J:112118 )
• occur with higher frequency

muscle
increased rhabdomyosarcoma incidence ( J:112118 )
• incidence is increased in frequency

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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory