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Phenotypes Associated with This Genotype
Genotype
MGI:3687745
Allelic
Composition
Ptch1tm1Yy/Ptch1tm1.1Yy
Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1.1Yy mutation (0 available); any Ptch1 mutation (115 available)
Ptch1tm1Yy mutation (0 available); any Ptch1 mutation (115 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• exhibit ectopic osteoblast differentiation in the perichondrium
• exhibit delayed osteoblast maturation as none is seen at E14.5 but is seen at E16.5
• chondrocyte proliferation in the presumed resting zone is significantly increased
• posterior skull fails to form
• in the humerus, chondrocyte hypertrophy is missing yet osteoblast differentiation occurs at E16.5; chondrocyte hypertrophy does occur in the radius, ulna and tibia
• long bones in the limb are shorter
• exhibit mild synovial joint fusion in embryos, such as the fusion of the radius and ulna with the carpel bones
• exhibit extensive and ectopic ossification at joints
• bone mineralization is enhanced
• mineralized periosteum extends ectopically to the joint region where mineralization is never seen in wild-type

craniofacial
• posterior skull fails to form

cellular
• exhibit ectopic osteoblast differentiation in the perichondrium
• exhibit delayed osteoblast maturation as none is seen at E14.5 but is seen at E16.5
• chondrocyte proliferation in the presumed resting zone is significantly increased


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
01/13/2026
MGI 6.24
The Jackson Laboratory