Phenotypes associated with this allele

• Allele Symbol: Ptch1^tm1.1Yy
• Allele Name: targeted mutation 1.1, Yingzi Yang
• Allele ID: MGI:3687453
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ctnnb1^tm1Yy/Ctnnb1^tm1.1Yy Ptch1^tm1Yy/Ptch1^tm1.1Yy Tg(Col2a1-cre)1Bhr/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3687747
cn2	Ptch1^tm1Yy/Ptch1^tm1.1Yy Tg(Col2a1-cre)1Bhr/0	involves: C57BL/6 * SJL	MGI:3687745

Genotype
MGI:3687747

cn1

• Allelic Composition: Ctnnb1^tm1Yy/Ctnnb1^tm1.1Yy; Ptch1^tm1Yy/Ptch1^tm1.1Yy; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

arrested osteoblast differentiation ( J:112462 )

• osteoblast differentiation is severely blocked and mature osteoblasts are almost completely absent in E16.5 embryo limbs

skeleton

arrested osteoblast differentiation ( J:112462 )

• osteoblast differentiation is severely blocked and mature osteoblasts are almost completely absent in E16.5 embryo limbs

abnormal elbow joint morphology ( J:112462 )

• the elbow joint interzone fails to form

abnormal long bone hypertrophic chondrocyte zone ( J:112462 )

• chondrocyte hypertrophy is inhibited

fused synovial joints ( J:112462 )

• show extensive synovial joint fusions which are much more severe than in each of the single mutants

abnormal perichondrium morphology ( J:112462 )

• perichondrium is thinner

decreased bone mineralization ( J:112462 )

• mineralization in the long bones is more severely reduced than in single conditional Ctnnb1 mutants

delayed endochondral bone ossification ( J:112462 )

• ossification is more severely inhibited than in single conditional Ctnnb1 mutants

craniofacial

craniofacial phenotype ( J:112462 )

N • exhibit normal posterior skull formation

limbs/digits/tail

abnormal elbow joint morphology ( J:112462 )

• the elbow joint interzone fails to form

Genotype
MGI:3687745

cn2

• Allelic Composition: Ptch1^tm1Yy/Ptch1^tm1.1Yy; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: C57BL/6 * SJL

skeleton

abnormal osteoblast differentiation ( J:112462 )

• exhibit ectopic osteoblast differentiation in the perichondrium

• exhibit delayed osteoblast maturation as none is seen at E14.5 but is seen at E16.5

increased chondrocyte proliferation ( J:112462 )

• chondrocyte proliferation in the presumed resting zone is significantly increased

abnormal cranium morphology ( J:112462 )

• posterior skull fails to form

abnormal long bone hypertrophic chondrocyte zone ( J:112462 )

• in the humerus, chondrocyte hypertrophy is missing yet osteoblast differentiation occurs at E16.5; chondrocyte hypertrophy does occur in the radius, ulna and tibia

decreased length of long bones ( J:112462 )

• long bones in the limb are shorter

fused synovial joints ( J:112462 )

• exhibit mild synovial joint fusion in embryos, such as the fusion of the radius and ulna with the carpel bones

abnormal bone ossification ( J:112462 )

• exhibit extensive and ectopic ossification at joints

abnormal bone mineralization ( J:112462 )

• bone mineralization is enhanced

• mineralized periosteum extends ectopically to the joint region where mineralization is never seen in wild-type

craniofacial

abnormal cranium morphology ( J:112462 )

• posterior skull fails to form

cellular

abnormal osteoblast differentiation ( J:112462 )

• exhibit ectopic osteoblast differentiation in the perichondrium

• exhibit delayed osteoblast maturation as none is seen at E14.5 but is seen at E16.5

increased chondrocyte proliferation ( J:112462 )

• chondrocyte proliferation in the presumed resting zone is significantly increased