Phenotypes Associated with This Genotype

Genotype
MGI:5788097

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

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

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 )

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

• Cobb angle of the lumbar spine is about 90 degrees

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