Phenotypes associated with this allele

• Allele Symbol: Tg(Col2a1-cre/ERT2)1Dic
• Allele Name: transgene insertion 1, Di Chen
• Allele ID: MGI:3698311
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tg(Col2a1-cre/ERT2)1Dic/0 Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl	involves: 129 * C57BL/6	MGI:6306137
cn2	Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Col2a1-cre/ERT2)1Dic/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5788097
cn3	Idh1^tm3Mak/Idh1^+ Tg(Col2a1-cre/ERT2)1Dic/0	involves: C57BL/6	MGI:5635894

Genotype
MGI:6306137

cn1

• Allelic Composition: Tg(Col2a1-cre/ERT2)1Dic/0; Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl
• Genetic Background: involves: 129 * C57BL/6

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

immune system

osteoarthritis ( J:271724 )

• tamoxifen-treated mice exhibit progressive degeneration and lesions of the knee articular cartilage from 2-6 months of age

• lesions exhibit as either empty lacuna or confined loss of cartilage tissue

• 3 month old tamoxifen-treated mice show an early osteoarthritis-like phenotype, including loss of proteoglycan content and cartilage tissue and increased number of hypertrophic chondrocytes in articular cartilage

• 6 month old tamoxifen-treated mice exhibit more severe destruction of the articular cartilage, associated with greater loss of proteoglycan content and cartilage, osteophyte formation and increased subchondral bone mass

skeleton

increased chondrocyte apoptosis ( J:271724 )

• tamoxifen-treated mice exhibit increased articular chondrocyte apoptosis

osteoarthritis ( J:271724 )

• tamoxifen-treated mice exhibit progressive degeneration and lesions of the knee articular cartilage from 2-6 months of age

• lesions exhibit as either empty lacuna or confined loss of cartilage tissue

• 3 month old tamoxifen-treated mice show an early osteoarthritis-like phenotype, including loss of proteoglycan content and cartilage tissue and increased number of hypertrophic chondrocytes in articular cartilage

• 6 month old tamoxifen-treated mice exhibit more severe destruction of the articular cartilage, associated with greater loss of proteoglycan content and cartilage, osteophyte formation and increased subchondral bone mass

osteophytes ( J:271724 )

• osteophyte formation is seen in 6 month old tamoxifen-treated mice

abnormal synovial joint morphology ( J:271724 )

• tamoxifen-treated mice exhibit synovial hyperplasia

abnormal articular cartilage morphology ( J:271724 )

• tamoxifen-treated mice show increased articular cartilage thickness at 2 months of age with zonal disruption and loss of proteoglycan content

cellular

increased chondrocyte apoptosis ( J:271724 )

• tamoxifen-treated mice exhibit increased articular chondrocyte apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoarthritis		DOID:8398		J:271724

Genotype
MGI:5788097

cn2

• Allelic Composition: Ptpn11^tm1Gsf/Ptpn11^tm1Gsf; Tg(Col2a1-cre/ERT2)1Dic/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

abnormal gait ( J:324822 )

• following tamoxifen treatment at 4 weeks of age

skeleton

skeleton phenotype ( J:324822 )

N • segmentation of individual vertebra bodies appears normal at 12 weeks of age after tamoxifen treatment at 4 weeks of age

abnormal vertebral column morphology ( J:324822 )

• progressive spinal deformity seen at 2-3 weeks after tamoxifen treatment starting at 4 weeks of age

• seen in about 40% of mice after tamoxifen treatment at 4 weeks of age

• however, following tamoxifen treatment at 8 weeks of age no spinal deformity is seen in mice at up to 16 weeks of age

abnormal spine curvature ( J:324822 )

• rotational deformity is also seen

kyphosis ( J:324822 )

• severe in the lower thoracic to lumbar spine

lordosis ( J:324822 )

• severe lordosis in the upper thoracic spine

scoliosis ( J:324822 )

• scoliosis is in the region of the lower thoracic and lumbar spine

kyphoscoliosis ( J:324822 )

• Cobb angle of the lumbar spine is about 90 degrees

• severe at 12 weeks of age following tamoxifen treatment at 4 weeks of age

abnormal vertebral epiphyseal plate morphology ( J:324822 )

• following tamoxifen treatment at 4 weeks of age, vertebra endplates show disorganized growth plate cartilage, variable cartilage thickness and absent columnar formation of chondrocytes

• height of growth plate cartilage appears increased

exostosis ( J:233244 )

• mice treated with tamoxifen at 4 weeks of age develop exostosis in the metacarpal-phalangeal and metatarsal-phalangeal joints and the distal radius/ulna with continuity from the metaphyseal bone adjacent to the growth plate

• mice first develop nodule formations in the dorsal hands and feet and in the wrist and ankle joints 2 weeks after tamoxifen treatment

• bony nodules in the hands of tamoxifen treated mice arise from the metaphyseal region of the metacarpal bone and cartilaginous matrix in the nodules originates form the groove of Ranvier

• cartilaginous nodules in the feet of tamoxifen treated mice form in the metaphysis of the distal metatarsal bones

ectopic cartilage ( J:233244 )

• tamoxifen treated mice develop enchondroma-like (ectopic cartilaginous nodules inside the bone) cartilage lesions in the ribs

• tamoxifen treated mice show irregular rib cartilage surface and disorganized column formation in the rib growth plate cartilage , prominent hypertrophic chondrocyte clusters at the perichondrium-to-rib cartilage junction, and multiple cartilage islands within the rib trabecular bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic scoliosis		DOID:0060250		J:324822

Genotype
MGI:5635894

cn3

• Allelic Composition: Idh1^tm3Mak/Idh1⁺; Tg(Col2a1-cre/ERT2)1Dic/0
• Genetic Background: involves: C57BL/6

skeleton

abnormal cartilage morphology ( J:220318 )

• mice injected with tamoxifen at 4 weeks of age for 10 doses exhibit knees with multiple enchondroma-like cartilage lesions adjacent to the growth plates; 4-8 cartilage lesions are seen in the growth plates of each knee