Phenotypes associated with this allele

• Allele Symbol: Ptch1^tm1Yy
• Allele Name: targeted mutation 1, Yingzi Yang
• Allele ID: MGI:3687452
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptch1^tm1Yy/Ptch1^tm1Yy	Not Specified	MGI:3687744
cn2	Ptch1^tm1Yy/Ptch1^tm1Yy Tg(BGLAP-cre)1Clem/0	involves: 129 * C57BL/6 * FVB/NJ	MGI:5780999
cn3	Ptch1^tm1Yy/Ptch1^+ Tg(BGLAP-cre)1Clem/0	involves: 129 * C57BL/6 * FVB/NJ	MGI:5781000
cn4	Ctnnb1^tm1Yy/Ctnnb1^tm1.1Yy Ptch1^tm1Yy/Ptch1^tm1.1Yy Tg(Col2a1-cre)1Bhr/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3687747
cn5	Ptch1^tm1Yy/Ptch1^+ Trp53^tm1Brd/Trp53^+ Tg(BGLAP-cre)1Clem/0	involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ	MGI:5781001
cn6	Ptch1^tm1Yy/Ptch1^tm1.1Yy Tg(Col2a1-cre)1Bhr/0	involves: C57BL/6 * SJL	MGI:3687745

Genotype
MGI:3687744

hm1

• Allelic Composition: Ptch1^tm1Yy/Ptch1^tm1Yy
• Genetic Background: Not Specified

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:112462 )

• a small percentage of homozygotes display embryonic/neonatal lethality

Genotype
MGI:5780999

cn2

• Allelic Composition: Ptch1^tm1Yy/Ptch1^tm1Yy; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/NJ

mortality/aging

premature death ( J:214349 )

• mice die within 3 months of age

skeleton

abnormal bone ossification ( J:214349 )

• focal bone overgrowth is frequently seen in long bones

Genotype
MGI:5781000

cn3

• Allelic Composition: Ptch1^tm1Yy/Ptch1⁺; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/NJ

neoplasm

neoplasm ( J:214349 )

N • mice do not exhibit any bone tumor formation up to 16 months of age

mortality/aging

mortality/aging ( J:214349 )

N • normal survival rate

Genotype
MGI:3687747

cn4

• 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

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:5781001

cn5

• Allelic Composition: Ptch1^tm1Yy/Ptch1⁺; Trp53^tm1Brd/Trp53⁺; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ

behavior/neurological

paralysis ( J:214349 )

• lower body paralysis due to spine tumors

neoplasm

increased metastatic potential ( J:214349 )

• occasionally, pulmonary metastasis is seen in the lungs

increased osteosarcoma incidence ( J:214349 )

• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance

• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull

• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma

• the majority of mutants develop only bone tumors

skeleton

increased osteosarcoma incidence ( J:214349 )

• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance

• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull

• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma

• the majority of mutants develop only bone tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteosarcoma		DOID:3347	OMIM:259500	J:214349

Genotype
MGI:3687745

cn6

• 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