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Phenotypes Associated with This Genotype
Genotype
MGI:5907609
Allelic
Composition
Tg(MT2A-TGFBR2)4Rser/0
Genetic
Background
involves: C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• progressive degeneration of cartilage resembling osteoarthritis in joints of older mice
• joints of older mice with mild degeneration exhibit fibrillated and disorganized articular cartilage and deeper chondrocytes are grouped into clusters
• joints with more severe degeneration show replacement of articular cartilage with hypertrophic cartilage and bone
• stiffness in the hindlimb joints
• skeletal defects are apparent by 3 months of age and become progressively worse with age
• however, E17.5 fetuses do not exhibit defects in size or shape of long bones or vertebrae
• in the most severe cases, the femur is pressed into the tibia and the entire surface of the tibia is destroyed
• sternal defects
• the xiphoid process of the sternum protrudes out from the chest
• xiphoid process is bifurcated in adults
• fusion of the sternum is incomplete in 64% of E17.5 fetuses, with varied degree of sternal bifurcation
• vertebrae are often misshapen
• early osteophytes are present as outgrowths of chondroid tissuein the articular margins
• mice exhibit less proteoglycan but more type X collagen localized in the cartilage matrix
• knee and shoulder joints are disorganized
• cartilaginous metaplasia is seen in synovium filling the joint space
• vertebrae often appear fused
• some degeneration of the articular surface in knee joints is seen at 4 weeks of age, with patches of articular surface denuded of cartilage and hypertrophic cells in the articular cartilage
• the synovium is hyperplastic and thrown into folds
• detached fragments of bone covered with cartilage is seen in the joint space
• knee and shoulder joints contain excess calcified tissue
• organization and histology of the growth plate is altered at 4 and 8 weeks of age
• a population of small, round cells is located between the proliferating and hypertrophic zones in 4 week old mice
• very few proliferating cells are seen in the growth plate at 8 weeks of age and most cells are hypertrophic and abnormally round
• disorganized zones of cartilage are often seen in the epiphyseal head of long bones at all ages
• growth plate is often disorganized or undetectable in bones from older mice
• cells in the proliferating zone are sometimes grouped into clusters in 4 week old mice
• at 4 weeks of age, the hypertrophic zone is thicker and the cells in this zone are not organized in columnar arrays

homeostasis/metabolism
• tumoral calcinosis in 4 of 19 mice

immune system
• progressive degeneration of cartilage resembling osteoarthritis in joints of older mice
• joints of older mice with mild degeneration exhibit fibrillated and disorganized articular cartilage and deeper chondrocytes are grouped into clusters
• joints with more severe degeneration show replacement of articular cartilage with hypertrophic cartilage and bone
• stiffness in the hindlimb joints

limbs/digits/tail
• hindlimbs are torqued laterally at varying angles in some cases
• in the most severe cases, the femur is pressed into the tibia and the entire surface of the tibia is destroyed

neoplasm
• tumoral calcinosis-like lesions, most often near the cervical vertebrae, although masses are seen along the vertebral column, in the axilla and pelivis, and in the paws

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:44579


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory