Phenotypes Associated with This Genotype

Genotype
MGI:3829655

• Allelic Composition: Pten^tm2Mak/Pten^tm2Mak; Tg(Col2a1-cre)1Xya/?
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

premature death ( J:143447 )

• death before 18 months from progressive hind limb paralysis

growth/size/body

increased body length ( J:143447 )

• bodies longer than controls at birth

limbs/digits/tail

long tail ( J:143447 )

• 11-14% longer than controls at 40 days of age

skeleton

abnormal long bone morphology ( J:143447 )

• width of long bones is noticeably greater

• lengths of tibia and femur are normal at 50 days of age

abnormal long bone epiphysis morphology ( J:143447 )

• 14 cartilaginous nodules in epiphyseal cavities of femurs from 9 mice

• clusters of nonproliferating chondrocytes appear in the central regions of growth plates at 3 days of age

• accelerated proliferation of flat shaped peripheral chondrocytes

• some smaller lower zone chondrocytes recover proliferative ability

kyphosis ( J:143447 )

• most mice develop thoracic kyphosis as they age

abnormal bone structure ( J:143447 )

abnormal bone marrow cavity morphology ( J:143447 )

• four cartilaginous nodules in the bone marrow cavity of tibias and femora of four mice

• cartilaginous nodules found in close proximity to the metaphyseal growth plates of knee joints

• non hypertrophic cartilagenous clusters penetrating the bone marrow cavity become hypertrophic

increased bone mineral density ( J:143447 )

abnormal cartilage morphology ( J:143447 )

• cartilaginous nodules limited at the periphery by lamellae of well mineralized trabecular bone

• nodules disappear after fusion of growth plates at 6 months

abnormal chondrocyte morphology ( J:143447 )

• neoplastic cores are hypocellular with enlarged balloon-like chondrocytes

• chondrocytes within neoplastic cores are surrounded by fewer collagen fibers

• have a distended and fragmented endoplastic reticulum

ectopic cartilage ( J:143447 )

• cartilaginous nodules in bone marrow cavity

• cartilaginous nodules in epiphyseal cavities

• non hypertrophic cartilagenous clusters penetrating the bone marrow cavity become hypertrophic and gradually form pseudogrowth plates

abnormal epiphyseal plate morphology ( J:143447 )

• growth plates are essentially normal embryonically

abnormal long bone hypertrophic chondrocyte zone ( J:143447 )

• neoplastic clusters penetrate through the hypertrophic zone into the bone marrow cavity

neoplasm

abnormal tumor susceptibility ( J:143447 )

• clusters of "resting" chondrocytes develop into neoplastic cores by day 5

• clusters become more distinct by day 7 and migrate toward epiphyses

behavior/neurological

hindlimb paralysis ( J:143447 )

• progressive hind limb paralysis results in death by 18 months