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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ptch1tm1Cklr
targeted mutation 1, Charles Keller
MGI:4453152
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ptch1tm1Cklr/Ptch1tm1Cklr involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4453162
cn2
Ptch1tm1Cklr/Ptch1+
Trp53tm1Brn/?
Pax7tm1(cre)Mrc/Pax7+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4453164
cn3
Ptch1tm1Cklr/Ptch1+
Pax7tm1(cre)Mrc/Pax7+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4453163


Genotype
MGI:4453162
hm1
Allelic
Composition
Ptch1tm1Cklr/Ptch1tm1Cklr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Cklr mutation (1 available); any Ptch1 mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• homozygous mice do not develop cancer




Genotype
MGI:4453164
cn2
Allelic
Composition
Ptch1tm1Cklr/Ptch1+
Trp53tm1Brn/?
Pax7tm1(cre)Mrc/Pax7+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax7tm1(cre)Mrc mutation (3 available); any Pax7 mutation (39 available)
Ptch1tm1Cklr mutation (1 available); any Ptch1 mutation (115 available)
Trp53tm1Brn mutation (18 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• earlier tumor onset, from 32 to 65 days of age
• bortezomib treated mice have better survival

nervous system
• earlier tumor onset, from 32 to 65 days of age
• bortezomib treated mice have better survival




Genotype
MGI:4453163
cn3
Allelic
Composition
Ptch1tm1Cklr/Ptch1+
Pax7tm1(cre)Mrc/Pax7+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax7tm1(cre)Mrc mutation (3 available); any Pax7 mutation (39 available)
Ptch1tm1Cklr mutation (1 available); any Ptch1 mutation (115 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 9 of 30 double heterozygous mice become ataxic starting around 88-100 days of age

neoplasm
• all ataxic mice have rapidly growing tumors in the cerebellum
• high nuclear to cytoplasm ratio in tumor cells
• tumors invade the subarachnoid space
• evidence of leptomeningeal metastasis

nervous system
• all ataxic mice have rapidly growing tumors in the cerebellum
• high nuclear to cytoplasm ratio in tumor cells
• tumors invade the subarachnoid space
• evidence of leptomeningeal metastasis





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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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory