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

Histological sternum sections of wild-type, and mice hemizygous and homozygous for Tg(Col2a1-PTHR1*H223R)AHju

• decrease in the number of hypertrophic chondrocytes
• ossification centers of vertebrae are reduced in size, however less pronounced than in homozygous transgenic mice
• metaphyseal chondrodysplasia
• at birth, show reduced or absent mineralization of many elements that develop by endochondral bone formation such as the supraoccipital bone, sternum, ischium and pubic bone, however, less pronounced than in homozygous transgenic mice
• impaired endochondral ossification, with extended growth plate length and absence of a clear secondary ossification center
• sternebrae of newborns have no blood vessel invasion and the middle part of tibiae are still occupied by cartilage at E17.5, however less pronounced than in homozygous transgenic mice
• delay in chondrocyte differentiation
• decease in chondrocyte apoptosis

Mouse Models of Human Disease
OMIM ID Ref(s)
Metaphyseal Chondrodysplasia, Jansen Type 156400 J:175572

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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