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Phenotypes Associated with This Genotype
Genotype
MGI:3584163
Allelic
Composition
Tg(Col2a1-PTHLH)1Ecw/0
Genetic
Background
involves: C57BL/6 * SJL
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

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

growth/size/body
• small in size although growth rate is similar to controls (J:76983)
• small in size although growth rate is similar to controls (J:76983)
• short-limbed dwarfism (J:76983)
• short-limbed dwarfism (J:76983)

limbs/digits/tail

skeleton
• shortening and bowing of the long bones (J:76983)
• shortening and bowing of the long bones (J:76983)
• vertebral length is reduced at 3 weeks of age (J:76983)
• vertebral length is reduced at 3 weeks of age (J:76983)
• delay in chondrocyte differentiation (J:76983)
• delay in chondrocyte differentiation (J:76983)
• growth plates of long bones are thickened (J:76983)
• growth plates of long bones are thickened (J:76983)
• delay in endochondrial bone ossification and profoundly altered sequence of endochondral bone development (J:76983)
• delay in endochondrial bone ossification and profoundly altered sequence of endochondral bone development (J:76983)
• 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 (J:76983)
• 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 (J:76983)
• born with a cartilaginous endochondral skeleton (J:76983)
• 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 (J:76983)
• born with a cartilaginous endochondral skeleton (J:76983)
• 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 (J:76983)

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
02/02/2016
MGI 6.02
The Jackson Laboratory