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Phenotypes Associated with This Genotype
involves: C57BL/6 * SJL
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phenotype observed in females
phenotype observed in males
N normal phenotype

Subgross analysis of skeletons of Tg(Col2a1-PTHLH)1Ecw/0 mice

• small in size although growth rate is similar to controls
• short-limbed dwarfism


• shortening and bowing of the long bones
• vertebral length is reduced at 3 weeks of age
• delay in chondrocyte differentiation
• growth plates of long bones are thickened
• delay in endochondrial bone ossification and profoundly altered sequence of endochondral bone development
• sequence of endochondral bone development is altered such that chondrocyte hypertrophy begins at the periphery of long bones rather than in the middle and initially leads to formation of pseudogrowth plates
• born with a cartilaginous endochondral skeleton
• ossification centers are not evident or are small and persist as cartilaginous primorida in many skeletal elements that form by endochondral ossification, however by 7 weeks of age, the delays in chondrocyte differentiation and ossification are largely corrected, leaving foreshortened and misshapen but histologically near-normal bones

Mouse Models of Human Disease
OMIM ID Ref(s)
Metaphyseal Chondrodysplasia, Jansen Type 156400 J:76983

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory